+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 292

Genes:
AARS2, ABCA9, ABCC8, AC093677.1, ACACB, ACAD11, ACAT1, ACHE, ACOT2, ACP6, ACSF3, ACSL5, ACSM2A, ACSS1, ADCK2, ADCK5, ADHFE1, ADO, AGMAT, AGXT2, AKAP10, ALDH1B1, ALDH5A1, AMACR, ANKRD26, APOA1BP, APOE, APOPT1, ARSA, ATIC, ATP10D, ATP5SL, ATP7B, ATP8B1, ATXN7, C14orf159, C21orf33, C9orf114, CACNA1A, CACNA1S, CASP8, CBR4, CCDC136, CCDC90B, CDC42BPA, CDC42BPG, CFTR, CHAT, CHDH, CLCN1, CLCN2, CLCNKB, CLN5, CLYBL, COA6, COQ2, COQ3, COQ4, COQ6, COQ7, COX10, CPS1, CPT1B, CPT2, CRAT, CRLS1, CROT, CYBA, CYC1, CYP11B2, CYP1A1, CYP2A7, CYP2D6, CYP2D7P, CYP3A5, CYP4F2, DACT2, DBT, DDC, DDX28, DHTKD1, DISC1, DMGDH, DMPK, DNAJA3, DNAJC11, DNAJC30, DPYD, EARS2, ECHDC3, ECHS1, ENO3, ETFDH, F13A1, F5, FAM136A, FAM65C, FASTKD2, FBP1, FDX1L, FDXR, FECH, FRMD3, FTH1, GAA, GALC, GARS, GATC, GATM, GBE1, GCAT, GFM1, GLS2, GLYAT, GLYCTK, GMPPB, GOT2, GPAM, GPD2, GPX1, GRSF1, GTPBP10, GTPBP3, GUF1, GYS2, H6PD, HADH, HIBCH, HSD3B1, HSDL1, IBA57, IMMT, IQCE, IREB2, ISCU, KCNE1, KCNH2, KCNJ11, KCNQ2, KIAA0141, L2HGDH, LACTB, LARS, LETM1, LIPT2, LPIN1, LRRK2, LYRM4, MARC1, MAVS, MCCC1, MCEE, MDH2, MECR, MEN1, MFN1, MIPEP, MMP3, MOCOS, MRPL10, MRPL18, MRPL28, MRPL35, MRPL37, MRPL39, MRPL40, MRPL52, MRPL9, MRPS27, MRPS28, MRPS30, MRPS31, MRPS34, MRS2, MTG1, MTHFD1, MTHFD1L, MTHFR, MTIF2, MTIF3, MTPAP, MTX1, MUT, NARS2, NAT2, NCOA4, NDUFA11, NDUFAF1, NDUFS7, NDUFV2, NDUFV3, NEU4, NFU1, NFXL1, NIF3L1, NIPSNAP3A, NLRX1, NOP56, NOS3, NUDT19, OGDHL, OMA1, OPA1, OPRM1, OXA1L, OXCT2, OXNAD1, PANK2, PARK2, PARL, PARP1, PARS2, PCK1, PCK2, PDPR, PEX16, PEX2, PEX6, PGM1, PHYHIPL, PINK1, PITRM1, PNPT1, POLRMT, PPARGC1A, PPARGC1B, PRDX5, PRODH, PRR5L, PRSS35, PSTK, QRSL1, RARS, RMDN1, RMDN2, RMND1, RPUSD4, RSAD1, RYR1, RYR2, SAMM50, SARDH, SCCPDH, SCN1A, SCN4A, SCO2, SDHA, SDHAF1, SLC15A2, SLC16A1, SLC22A1, SLC22A2, SLC25A15, SLC25A2, SLC25A21-AS1, SLC25A39, SLC25A43, SLC25A45, SLC25A5, SLC25A6, SLC35G2, SLC37A4, SLC3A1, SLCO1B1, SLCO1B3, SOD2, SPG7, SPRYD4, SQRDL, SUCLA2, TCN2, THEM4, THEM5, THG1L, TIMM23, TMEM70, TOP1MT, TRAP1, TRIT1, TRMT10C, TRNT1, TSPO, TXNRD2, UGT2B15, UQCC1, UQCRFS1, USP24, VARS2, VDR, WBSCR16, WFS1, WWOX,

+ Genes associated with diseases 149

Genes at Omim

AARS2, ABCC8, ACAT1, ACHE, ACSF3, AGXT2, AKAP10, ALDH5A1, AMACR, ANKRD26, APOE, APOPT1, ARSA, ATIC, ATP7B, ATP8B1, ATXN7, CACNA1A, CACNA1S, CASP8, CFTR, CHAT, CLCN1, CLCN2, CLCNKB, CLN5, COA6, COQ2, COQ4, COQ6, COQ7, COX10, CPS1, CPT2, CRAT, CYBA, CYC1, CYP11B2, CYP2D6, CYP3A5, DBT, DDC, DHTKD1, DISC1, DMGDH, DMPK, DPYD, EARS2, ECHS1, ENO3, ETFDH, F13A1, F5, FASTKD2, FBP1, FDX1L, FDXR, FECH, FTH1, GAA, GALC, GARS, GATM, GBE1, GFM1, GLYCTK, GMPPB, GPD2, GPX1, GTPBP3, GUF1, GYS2, H6PD, HIBCH, IBA57, IQCE, ISCU, KCNE1, KCNH2, KCNJ11, KCNQ2, L2HGDH, LARS, LIPT2, LPIN1, LRRK2, LYRM4, MCCC1, MCEE, MDH2, MECR, MEN1, MIPEP, MMP3, MOCOS, MRPS34, MTHFD1, MTHFR, MTPAP, MUT, NARS2, NAT2, NDUFA11, NDUFAF1, NDUFS7, NDUFV2, NFU1, NOP56, NOS3, OPA1, PANK2, PCK1, PCK2, PEX16, PEX2, PEX6, PGM1, PINK1, PNPT1, PPARGC1B, PRODH, RARS, RMND1, RYR1, RYR2, SARDH, SCN1A, SCN4A, SCO2, SDHA, SDHAF1, SLC16A1, SLC25A15, SLC37A4, SLC3A1, SLCO1B1, SLCO1B3, SOD2, SUCLA2, TCN2, TMEM70, TRIT1, TRMT10C, TRNT1, TXNRD2, VARS2, VDR, WFS1, WWOX,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACHE [Blood group, Yt system], 112100 (3)
ACSF3 Combined malonic and methylmalonic aciduria, 614265 (3)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ARSA Metachromatic leukodystrophy, 250100 (3)
ATIC AICA-ribosiduria due to ATIC deficiency, 608688 (3)
ATP7B Wilson disease, 277900 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CASP8 Hepatocellular carcinoma, somatic, 114550 (3)
{Lung cancer, protection against}, 211980 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
{Breast cancer, protection against}, 114480 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
CLCN2 Hyperaldosteronism, familial, type II, 605635 (3)
Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
COQ7 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
CPT2 CPT II deficiency, infantile, 600649 (3)
CPT II deficiency, lethal neonatal, 608836 (3)
CPT II deficiency, myopathic, stress-induced, 255110 (3)
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
CYP3A5 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
DBT Maple syrup urine disease, type II, 248600 (3)
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DISC1 {Schizophrenia 9, susceptibility to}, 604906 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DMPK Myotonic dystrophy 1, 160900 (3)
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
5-fluorouracil toxicity, 274270 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
F5 Factor V deficiency, 227400 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
FASTKD2 ?Mitochondrial complex IV deficiency, 220110 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
FTH1 ?Hemochromatosis, type 5, 615517 (3)
GAA Glycogen storage disease II, 232300 (3)
GALC Krabbe disease, 245200 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GLYCTK D-glyceric aciduria, 220120 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GPD2 {Diabetes, type 2, susceptibility to}, 125853 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
IBA57 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
KCNE1 Long QT syndrome 5, 613695 (3)
Jervell and Lange-Nielsen syndrome 2, 612347 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
LYRM4 ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCEE Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MDH2 Epileptic encephalopathy, early infantile, 51, 617339 (3)
MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MIPEP Combined oxidative phosphorylation deficiency 31, 617228 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MRPS34 Combined oxidative phosphorylation deficiency 32, 617664 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NAT2 [Acetylation, slow], 243400 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NFU1 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NOS3 {Hypertension, pregnancy-induced}, 189800 (3)
{Hypertension, susceptibility to}, 145500 (3)
{Ischemic stroke, susceptibility to}, 601367 (3)
{Placental abruption} (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Coronary artery spasm 1, susceptibility to} (3)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
PGM1 Congenital disorder of glycosylation, type It, 614921 (3)
PINK1 Parkinson disease 6, early onset, 605909 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPARGC1B {Obesity, variation in}, 601665 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SARDH [Sarcosinemia], 268900 (3)
SCN1A Febrile seizures, familial, 3A, 604403 (3)
Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)
Migraine, familial hemiplegic, 3, 609634 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Erythrocyte lactate transporter defect, 245340 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC3A1 Cystinuria, 220100 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TRMT10C Combined oxidative phosphorylation deficiency 30, 616974 (3)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
WWOX Epileptic encephalopathy, early infantile, 28, 616211 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)

Genes at Clinical Genomics Database

AARS2, ABCC8, ACAT1, ACHE, ACSF3, ALDH5A1, AMACR, ANKRD26, APOE, APOPT1, ARSA, ATIC, ATP7B, ATP8B1, ATXN7, CACNA1A, CACNA1S, CASP8, CFTR, CHAT, CLCN1, CLCN2, CLCNKB, CLN5, COA6, COQ2, COQ4, COQ6, COQ7, COX10, CPS1, CPT2, CYBA, CYC1, CYP11B2, CYP2D6, CYP3A5, CYP4F2, DBT, DDC, DHTKD1, DMGDH, DMPK, DPYD, EARS2, ECHS1, ENO3, ETFDH, F13A1, F5, FASTKD2, FBP1, FECH, FTH1, GAA, GALC, GARS, GATM, GBE1, GFM1, GLYCTK, GMPPB, GTPBP3, GYS2, H6PD, HADH, HIBCH, IBA57, ISCU, KCNE1, KCNH2, KCNJ11, KCNQ2, L2HGDH, LARS, LPIN1, LRRK2, LYRM4, MCCC1, MCEE, MEN1, MTHFD1, MTHFR, MTPAP, MUT, NARS2, NAT2, NDUFA11, NDUFAF1, NDUFS7, NDUFV2, NFU1, NOP56, OPA1, PANK2, PARK2, PEX16, PEX2, PEX6, PGM1, PINK1, PNPT1, PRODH, RARS, RMND1, RYR1, RYR2, SCN1A, SCN4A, SCO2, SDHA, SDHAF1, SLC16A1, SLC25A15, SLC37A4, SLC3A1, SLCO1B1, SLCO1B3, SPG7, SUCLA2, TCN2, TMEM70, TRAP1, TRNT1, VARS2, VDR, WFS1, WWOX,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAT1 Alpha-methylacetoacetic aciduria
ACHE Blood group, Yt system
ACSF3 Combined malonic and methylmalonic aciduria
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
ANKRD26 Thrombocytopenia 2
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
APOPT1 Mitochondrial complex IV deficiency
ARSA Metachromatic leukodystrophy
ATIC AICAR transformylase/IMP cyclohydrolase deficiency
ATP7B Wilson disease
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
ATXN7 Spinocerebellar ataxia 7
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CASP8 Caspase 8 defiency
CFTR Cystic fibrosis
CHAT Myasthenic syndrome, congenital 6, presynaptic
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
CLCN2 Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
CLCNKB Bartter syndrome, type 3
Bartter syndrome, type 4, digenic
CLN5 Ceroid lipofuscinosis, neuronal, 5
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COQ2 Coenzyme Q10 deficiency 1
COQ4 Coenzyme Q10 deficiency 7
COQ6 Coenzyme Q10 deficiency, primary 6
COQ7 Coenzyme Q10 deficiency, primary 8
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CPS1 Carbamoylphosphate synthetase I deficiency
CPT2 Carnitine palmitoyltransferase II deficiency
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP2D6 Drug metabolism, CYP2CD6-related
CYP3A5 Drug metabolism, CYP3A5-related
CYP4F2 Warfarin metabolism
DBT Maple syrup urine disease, type II
DDC Aromatic l-amino acid decarboxylase deficiency
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DMGDH Dimethylglycine dehydrogenase deficiency
DMPK Myotonic dystrophy 1
DPYD 5-fluorouracil toxicity
EARS2 Combined oxidative phosphorylation deficiency 12
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ENO3 Glycogen storage disease XIII
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
F13A1 Factor XIIIA deficiency
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FASTKD2 Mitochondrial complex IV deficiency
FBP1 Fructose-1,6-bisphosphatase deficiency
FECH Protoporphyria, erythropoietic
FTH1 Hemochromatosis, type 5
GAA Glycogen storage disease II
GALC Krabbe disease
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GATM Cerebral creatine deficiency syndrome 3
GBE1 Glycogen storage disease IV
GFM1 Combined oxidative phosphorylation deficiency 1
GLYCTK D-glyceric aciduria
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS2 Glycogen storage disease, type 0, liver
H6PD Cortisone reductase deficiency
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
IBA57 Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
ISCU Myopathy with lactic acidosis, hereditary
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
L2HGDH L-2-hydroxyglutaric aciduria
LARS Infantile liver failure syndrome 1
LPIN1 Myoglobinuria, acute, recurrent, autosomal recessive
LRRK2 Parkinson disease 8
Dementia, Lewy body
LYRM4 Combined oxidative phosphorylation deficiency 19
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCEE Methylmalonyl-CoA epimerase deficiency
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MTHFD1 Severe combined immunodeficiency
MTHFR Homocystinuria due to MTHFR deficiency
MTPAP Spastic ataxia 4, autosomal recessive
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NARS2 Combined oxidative phosphorylation deficiency 24
NAT2 Acetylation, NAT2-related
NDUFA11 Mitochondrial complex I deficiency
NDUFAF1 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NDUFV2 Mitochondrial complex I deficiency
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NOP56 Spinocerebellar ataxia 36
OPA1 Glaucoma, normal tension, susceptibility to
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PARK2 Parkinson disease 2, autosomal recessive juvenile
PEX16 Peroxisome biogenesis factor disorder 16
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
PEX6 Heimler syndrome 2
PGM1 Congenital disorder of glycosylation, type It
PINK1 Parkinson disease 6, autosomal recessive, early onset
PNPT1 Deafness, autosomal recessive 70
PRODH Hyperprolinemia, type I
RARS Leukodystrophy, hypomyelinating 9
RMND1 Combined oxidative phosphorylation deficiency 11
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SCN1A Migraine, familial hemiplegic 3
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SDHAF1 Mitochondrial complex II deficiency
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC3A1 Cystinuria
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SPG7 Spastic paraplegia 7, autosomal recessive
SUCLA2 Mitochondrial DNA depletion syndrome 5
TCN2 Transcobalamin II deficiency
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
VARS2 Combined oxidative phosphorylation deficiency 20
VDR Vitamin D-dependent rickets, type 2A
WFS1 Wolfram syndrome
WWOX Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12

Genes at HGMD

Summary

Number of Variants: 400
Number of Genes: 292

Export to: CSV

IQCE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs3735109
dbSNP Clinvar 		2649704 617.07 T G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.38200 0.71 0.00 -1.03 None None . . . None IQCE|0.003370875|87.98%

PPARGC1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 5 rs147369640
dbSNP Clinvar 		149210376 1508.91 A G PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.01 0.84 4.51 None None . . . None PPARGC1B|0.269514067|29.92%

RARS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 5 . 167933156 313.18 ATT GTA PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None None None None None None None RARS|0.932338874|2.73%

TIMM23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs4935253
dbSNP Clinvar 		51623190 6.28 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.00 1.61 None None .,. .,. .,. None TIMM23|0.309726083|26.85%
View trf_44289 10 rs61847112
dbSNP Clinvar 		51623174 1.1 C A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.00 0.35 None None . . . None TIMM23|0.309726083|26.85%
View trf_44289 10 rs4935252
dbSNP Clinvar 		51623147 138.83 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.01 1.21 None None . . . None TIMM23|0.309726083|26.85%

PEX6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 . 42932200 2096.73 GGC TGT PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None PEX6|0.097337007|51.65%

CPS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 2 . 211456637 1909.08 ACC GCT PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.00 -100.00 None None . . . None CPS1|0.827402852|5.16%

CACNA1S
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 . 201052310 1306.36 AGA TGC PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None CACNA1S|0.323841456|25.88%

CLCNKB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 . 16375063 266.83 CA GC PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.79 0.00 -100.00 None None . . . None CLCNKB|0.024900854|71.85%

MRPS28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 8 rs763872537
dbSNP Clinvar 		80942456 533.52 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.32 2.18 None None . . . None MRPS28|0.085515369|54.05%,TPD52|0.138758213|44.57%

PDPR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 16 rs112617700
dbSNP Clinvar 		70172890 306.23 C T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.89 4.98 None None . . . None PDPR|0.230085015|33.36%
View trf_44289 16 rs59034887
dbSNP Clinvar 		70170222 822.61 G T PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.14131 0.17 0.01 2.03 None None . . . None PDPR|0.230085015|33.36%
View trf_44289 16 rs10852462
dbSNP Clinvar 		70164334 214.76 A G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.69 0.13 1.71 None None . . . None PDPR|0.230085015|33.36%
View trf_44289 16 rs2549532
dbSNP Clinvar 		70161263 323.83 T C PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.00 1.58 None None . . . None PDPR|0.230085015|33.36%

OXCT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs1050917
dbSNP Clinvar 		40235489 210.01 T C PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -1.22 None None . . . None BMP8B|0.042910691|64.83%,OXCT2|0.002750167|89.14%

FAM136A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 2 rs78704688
dbSNP Clinvar 		70524444 179.21 C G PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.01 1.60 None None . . . None FAM136A|0.019073327|74.63%

LARS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 5 . 145508636 540.6 TA CC PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None LARS|0.88780844|3.76%

ISCU
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 12 . 108956417 1346.98 TT GG PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.00 -100.00 None None . . . None ISCU|0.222032227|34.21%

ACOT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs149033118
dbSNP Clinvar 		74041748 344.98 A G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 -1.53 None None . . . None ACOT2|0.010972761|80.08%

DMPK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 . 46278247 808.54 G T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 4.01 None None . . . None DMPK|0.106803159|49.83%

RYR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs766135560
dbSNP Clinvar 		38966002 1064.25 C T PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.22 2.98 None None . . . None RYR1|0.508975831|15.43%

MRPS31
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 13 rs755050072
dbSNP Clinvar 		41340917 546.79 C G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.14 1.03 None None . . . None MRPS31|0.014153198|77.76%

CYP1A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 15 rs774097027
dbSNP Clinvar 		75015369 798.81 A G PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.71 1.81 None None . . . None CYP1A1|0.242980721|32.19%

ACOT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs7494
dbSNP Clinvar 		74042189 85.42 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 0.18 None None . . . None ACOT2|0.010972761|80.08%

OXA1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 . 23237210 257.57 C A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.31 -0.63 None None . . . None OXA1L|0.120087489|47.42%

PCK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs3021119
dbSNP Clinvar 		24567498 2920.9 A C PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 -0.06 None None . . . None NRL|0.215034879|34.98%,PCK2|0.372443251|22.57%

PEX16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs10742772
dbSNP Clinvar 		45937267 4660.1 C T PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 0.47 None None . . . None PEX16|0.175218638|39.61%

SDHAF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs7249826
dbSNP Clinvar 		36486445 1177.1 G C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.54 0.00 0.45 None None . . . None SDHAF1|0.020005696|74.19%

MFN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs7637065
dbSNP Clinvar 		179096508 2192.77 C G PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 -1.09 None None . . . None MFN1|0.504082582|15.62%

ACAD11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs821572
dbSNP Clinvar 		132360883 2411.97 C T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 0.25 None None . . . None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

RMDN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 2 rs4670800
dbSNP Clinvar 		38179134 6195.69 G A PASS 1/1 191 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.41 0.00 -1.28 None None . . . None RMDN2|0.050273081|62.58%

ATP8B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 18 rs222581
dbSNP Clinvar 		55317676 1676.26 C T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 -1.02 None None . . . None ATP8B1|0.161108429|41.4%

COQ4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs3003601
dbSNP Clinvar 		131085373 1080.89 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.99800 0.99800 0.00295 1.00 0.00 0.45 None None . . . None COQ4|0.009066035|81.6%

MTG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs2255246
dbSNP Clinvar 		135233541 3927.32 A G PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.99720 0.99720 0.00323 1.00 0.00 -2.08 None None . . . None MTG1|0.02988527|69.46%

THEM5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs6587624
dbSNP Clinvar 		151820298 911.55 G C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.99661 0.99660 0.00469 1.00 0.00 -2.21 None None .,. .,. .,. None THEM5|0.019802757|74.29%

CRAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs3118635
dbSNP Clinvar 		131860901 2219.21 G T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.99641 0.99640 0.00400 1.00 0.00 0.47 None None . . . None CRAT|0.115517986|48.2%

PEX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 8 rs10087163
dbSNP Clinvar 		77895865 6336.82 A G PASS 1/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.01084 1.00 0.00 -0.84 None None . . . None PEX2|0.098834485|51.39%

F5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs6025
dbSNP Clinvar 		169519049 4858.14 T C PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.99401 0.99400 0.02138 1.00 0.00 0.07 None None rs6025 -5 Thrombophilia_due_to_factor_V_Leiden None F5|0.038758204|66.18%

CLCN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs10282312
dbSNP Clinvar 		143017807 1674.2 G T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.99361 0.99360 0.01815 1.00 0.00 0.30 None None . . . None CLCN1|0.158802473|41.75%

MOCOS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 18 rs540967
dbSNP Clinvar 		33779896 3741.11 A G PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.99341 0.99340 0.00877 0.73 0.00 -1.19 None None . . . None MOCOS|0.024312785|72.09%

CCDC136
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs4728137
dbSNP Clinvar 		128455767 646.07 C G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.99321 0.99320 0.00573 1.00 0.00 -1.60 None None .,. .,. .,. None CCDC136|0.059164626|60.11%

DDC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs6264
dbSNP Clinvar 		50611735 2261.96 T C PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.99321 0.99320 0.00669 0.43 0.00 0.94 None None . . . None DDC|0.20754624|35.85%

MOCOS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 18 rs623558
dbSNP Clinvar 		33780020 5761.62 A G PASS 1/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.99261 0.99260 0.00877 0.22 0.00 -1.63 None None . . . None MOCOS|0.024312785|72.09%

GMPPB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs1466685
dbSNP Clinvar 		49760039 2020.57 T C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.98902 0.98900 0.01084 0.15 0.00 1.11 None None . . . None AMIGO3|0.025035326|71.77%,GMPPB|0.248151066|31.69%

SPRYD4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 12 rs2657881
dbSNP Clinvar 		56862886 922.76 T C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.98882 0.98880 0.00669 1.00 0.00 2.59 None None . . . None MIP|0.306598169|27.11%,SPRYD4|0.138667673|44.59%

GRSF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs6813092
dbSNP Clinvar 		71705262 87.04 A G PASS 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.98742 0.98740 0.43 0.00 -1.99 None None . . . None GRSF1|0.183725799|38.56%

CYP2D7P
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 22 rs3020732
dbSNP Clinvar 		42538876 1978.7 A T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.98542 0.98540 0.15 0.00 0.56 None None . . . None None

ACP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs6593795
dbSNP Clinvar 		147121977 860.81 C T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.98443 0.98440 0.01453 0.13 0.15 1.46 None None . . . None ACP6|0.053267553|61.72%

GBE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs2172397
dbSNP Clinvar 		81643167 6092.57 T C PASS 1/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.98363 0.98360 0.02073 1.00 0.00 -0.02 None None . . . None GBE1|0.676333713|9.2%

MIPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 13 rs7333040
dbSNP Clinvar 		24411772 1919.14 T C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.98303 0.98300 0.01492 1.00 0.00 1.12 None None . . . None MIPEP|0.071266987|57.15%

IREB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 15 rs2958720
dbSNP Clinvar 		78758677 512.97 G C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.97764 0.97760 0.03321 0.25 0.00 2.77 None None . . . None IREB2|0.445763934|18.38%

FBP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs1769259
dbSNP Clinvar 		97369149 3641.7 C T PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.97644 0.97640 0.04559 1.00 0.00 0.31 None None . . . None FBP1|0.199003275|36.83%

IREB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 15 rs2230940
dbSNP Clinvar 		78780104 1498.94 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.97604 0.97600 0.03521 1.00 0.00 0.41 None None . . . None IREB2|0.445763934|18.38%

DDX28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 16 rs237831
dbSNP Clinvar 		68057096 1355.57 T C PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.05297 1.00 0.00 -0.47 None None . . . None DUS2|0.231209011|33.27%,DDX28|0.025954157|71.34%

SLC25A45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs624307
dbSNP Clinvar 		65144075 3622.47 T C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.97145 0.97140 0.02571 1.00 0.00 0.49 None None . . . None SLC25A45|0.031031325|68.95%

DHTKD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs1279138
dbSNP Clinvar 		12111090 2900.09 T C PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.97025 0.97020 0.03252 1.00 0.00 -0.34 None None . . . None DHTKD1|0.100987325|50.99%

PRSS35
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs504593
dbSNP Clinvar 		84233831 1125.54 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.96765 0.96770 0.07658 0.60 0.00 -1.09 None None . . . None PRSS35|0.02225807|73.07%

CYC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 8 rs7820984
dbSNP Clinvar 		145150832 960.83 A G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.96286 0.96290 0.04484 0.49 0.00 -1.58 None None . . . None CYC1|0.107950243|49.59%

UQCRFS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs8100724
dbSNP Clinvar 		29704010 1623.87 A C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.95387 0.95390 1.00 0.00 -1.30 None None . . . None UQCRFS1|0.121887826|47.15%

COQ3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs4144164
dbSNP Clinvar 		99817601 1308.78 A G PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.94908 0.94910 0.05759 1.00 0.00 0.35 None None . . . None COQ3|0.165096163|40.91%

ANKRD26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs7897309
dbSNP Clinvar 		27389197 542.58 T C PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.94469 0.94470 0.10655 1.00 0.00 -0.18 None None . . . None ANKRD26|0.003195391|88.32%

SCN4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 17 rs6504191
dbSNP Clinvar 		62041068 2472.13 T C PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.94429 0.94430 0.08463 0.43 0.00 -0.91 None None rs6504191 2 not_specified None SCN4A|0.296782735|27.91%

GALC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs421262
dbSNP Clinvar 		88401213 2051.51 T C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.04052 1.00 0.00 -0.68 None None rs421262 2 not_specified None GALC|0.120631717|47.35%

PRDX5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs7938623
dbSNP Clinvar 		64085785 586.88 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.93890 0.93890 0.06498 0.18 0.00 1.07 None None . . . None PRDX5|0.014349637|77.59%

ALDH1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs4878199
dbSNP Clinvar 		38396502 2005.81 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.93850 0.93850 0.07812 1.00 0.00 -2.55 None None . . . None ALDH1B1|0.096225216|51.9%

APOA1BP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs7516274
dbSNP Clinvar 		156561651 1117.39 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.92871 0.92870 0.05228 1.00 0.00 -0.81 None None . . . None APOA1BP|0.065641707|58.46%

GLYAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs675815
dbSNP Clinvar 		58478084 2335.24 T C PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.92652 0.92650 0.01462 1.00 0.00 -0.90 None None . . . None GLYAT|0.02463856|71.96%

THEM4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs3748805
dbSNP Clinvar 		151881885 487.25 A C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.92292 0.92290 0.47 0.00 -0.85 None None . . . None THEM4|0.00575941|84.91%

ECHDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs7910140
dbSNP Clinvar 		11797467 3292.75 G A PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.91594 0.91590 0.08781 1.00 0.02 0.40 None None . . . None ECHDC3|0.029496468|69.61%
View trf_44289 10 rs4750090
dbSNP Clinvar 		11789382 1192.01 G A PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.91354 0.91350 0.08927 0.06 0.20 5.18 None None . . . None ECHDC3|0.029496468|69.61%

MRPL39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 21 rs3989369
dbSNP Clinvar 		26978950 1953.26 A G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.90795 0.90790 0.09634 1.00 0.00 -1.35 None None . . . None None

USP24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs1165222
dbSNP Clinvar 		55638075 3012.16 G A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.90715 0.90710 0.14937 0.57 0.00 0.46 None None . . . None USP24|0.407934001|20.31%

PRODH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 22 rs450046
dbSNP Clinvar 		18901004 1543.76 C T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.90555 0.90560 0.09580 0.42 0.00 1.61 None None rs450046 -5|-5 Proline_dehydrogenase_deficiency|not_provided None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%

TRNT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs334773
dbSNP Clinvar 		3170792 795.38 C T PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.90455 0.90460 0.09819 0.56 0.00 -1.08 None None . . . None None

DBT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs12021720
dbSNP Clinvar 		100672060 2734.2 T C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.89177 0.89180 0.14078 1.00 0.00 -0.69 None None rs12021720 3 not_specified None DBT|0.521312954|14.95%

AARS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs324136
dbSNP Clinvar 		44275011 1968.76 T C PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.11341 0.96 0.00 -0.60 None None . . . None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

WFS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs1801212
dbSNP Clinvar 		6302519 1727.69 G A PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.88439 0.88440 0.20068 1.00 0.00 -0.78 None None rs1801212 2 not_specified None WFS1|0.225742755|33.79%

PANK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 20 rs3737084
dbSNP Clinvar 		3870124 722.31 G C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.87919 0.87920 0.06331 1.00 0.00 0.91 None None rs3737084 2 not_specified None PANK2|0.283390234|28.84%

CDC42BPA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs2802269
dbSNP Clinvar 		227182033 750.67 G A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.87820 0.87820 0.09666 1.00 0.00 1.61 None None . . . None CDC42BPA|0.577554546|12.69%

AGXT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 5 rs180749
dbSNP Clinvar 		35033605 4459.21 G A PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.87500 0.87500 0.05790 0.23 0.01 1.26 None None . . . None AGXT2|0.105323014|50.19%

HADH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs4956145
dbSNP Clinvar 		108931039 2960.36 T C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.86901 0.86900 0.15055 1.00 0.00 1.10 None None . . . None HADH|0.672845448|9.29%

MRPL52
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs4982685
dbSNP Clinvar 		23299286 1662.28 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.86761 0.86760 0.16433 1.00 0.00 -1.41 None None . . . None MRPL52|0.091775804|52.86%

CHDH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs12676
dbSNP Clinvar 		53857803 672.78 A C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.86582 0.86580 0.22784 0.36 0.01 -0.20 None None . . . None CHDH|0.021054975|73.66%

MOCOS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 18 rs623053
dbSNP Clinvar 		33779855 3308.02 C T PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.86442 0.86440 0.08765 0.80 0.00 -2.27 None None . . . None MOCOS|0.024312785|72.09%

SLC22A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs316019
dbSNP Clinvar 		160670282 2119.23 A C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.12087 0.00 0.52 1.26 None None . . . None SLC22A2|0.047149899|63.54%

ABCA9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 17 rs1860447
dbSNP Clinvar 		67031457 2642.34 C T PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 -1.12 None None . . . None ABCA9|0.017284198|75.69%

MOCOS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 18 rs678560
dbSNP Clinvar 		33785093 3557.41 G A PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 0.09603 0.36 0.02 0.09 None None . . . None MOCOS|0.024312785|72.09%

PCK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 20 rs707555
dbSNP Clinvar 		56137895 1370.4 G C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.84605 0.84600 0.09880 1.00 0.00 -0.17 None None . . . None PCK1|0.222187603|34.18%

CLCNKB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs5253
dbSNP Clinvar 		16380196 5598.22 T C PASS 1/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.83826 0.83830 0.11175 0.46 0.00 -2.12 None None . . . None CLCNKB|0.024900854|71.85%

COQ3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs6925344
dbSNP Clinvar 		99819379 1409.86 T C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.83606 0.83610 0.20567 1.00 0.00 0.09 None None . . . None COQ3|0.165096163|40.91%

MEN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs2959656
dbSNP Clinvar 		64572018 1422.48 T C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.09157 0.76 0.00 -1.71 None None . . . None MEN1|0.661753232|9.63%

PRR5L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs330261
dbSNP Clinvar 		36422792 2034.07 G A PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.83367 0.83370 0.18023 0.31 0.00 -0.00 None None . . . None PRR5L|0.156881935|42.04%

HSD3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs1047303,rs45609334
dbSNP Clinvar 		120057246 4970.94 C A PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.83347 0.83350 0.25085 0.30 0.02 -1.63 None None . . . None HSD3B1|0.053451003|61.63%

CLCNKB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs7367494,rs34188929
dbSNP Clinvar 		16376191 1086.17 C T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.82987 0.82990 1.00 0.01 -1.39 None None . . . None CLCNKB|0.024900854|71.85%

TSPO
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 22 rs6971
dbSNP Clinvar 		43558926 1214.3 A G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.82828 0.82830 0.27364 1.00 0.00 -0.94 None None .,. .,. .,. None TSPO|0.999999927|0%

ACSM2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 16 rs9924150
dbSNP Clinvar 		20492000 359.01 A G PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.82628 0.82630 1.00 0.00 -0.66 None None . . . None ACSM2A|0.005190474|85.6%

CLYBL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 13 rs3783185
dbSNP Clinvar 		100518580 354.02 A G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.82508 0.82510 0.23697 0.06 0.34 2.77 None None . . . None CLYBL|0.43420364|18.99%

NOS3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs1799983
dbSNP Clinvar 		150696111 1409.88 T G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.82368 0.82370 0.25339 1.00 0.00 -1.05 None None rs1799983 5 Hypertension_resistant_to_conventional_therapy None NOS3|0.992916119|0.96%

MTHFD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs1950902
dbSNP Clinvar 		64882380 1305.96 A G PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.82348 0.82350 0.16846 1.00 1.00 1.84 None None . . . None MTHFD1|0.098899364|51.37%