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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 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

AARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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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%

ABCA9

Omim - GeneCards - NCBI
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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%
View trf_44289 17 rs2302294
dbSNP Clinvar
66985992 344.96 T G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.46 3.75 None None . . . None ABCA9|0.017284198|75.69%

ABCC8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs757110
dbSNP Clinvar
17418477 851.06 C A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.72644 0.72640 0.26144 0.63 0.00 -1.58 None None .,. .,. .,. None ABCC8|0.967482639|1.79%

AC093677.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs2289443
dbSNP Clinvar
75023709 2391.84 C T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.69429 0.69430 0.00 None None None None None None MTHFD2L|0.173905555|39.79%

ACACB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 12 rs60293430
dbSNP Clinvar
109665242 903.16 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.07520 0.23 0.57 3.03 None None . . . None ACACB|0.108212697|49.54%
View trf_44289 12 rs2075260
dbSNP Clinvar
109696838 3577.02 G A PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.73882 0.73880 0.21898 1.00 0.00 0.94 None None . . . None ACACB|0.108212697|49.54%
View trf_44289 12 rs61752535
dbSNP Clinvar
109684125 954.57 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.07558 0.04 0.77 4.19 None None . . . None ACACB|0.108212697|49.54%

ACAD11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs41272321
dbSNP Clinvar
132338346 1947.67 T G PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.07818 0.00 0.04 1.27 None None . . . None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%
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%

ACAT1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs3741056
dbSNP Clinvar
107992346 303.18 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.20971 0.02 0.14 3.11 None None rs3741056 2 not_specified None ACAT1|0.138678583|44.58%

ACHE

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs1799806
dbSNP Clinvar
100488658 627.58 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.26937 0.26940 0.34119 0.38 0.13 1.93 0.05 0.61909 D . . . None ACHE|0.455026425|17.93%

ACOT2

Omim - GeneCards - NCBI
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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%
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%

ACP6

Omim - GeneCards - NCBI
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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%

ACSF3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 16 rs7188200
dbSNP Clinvar
89167094 1952.41 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.62440 0.62440 0.27 0.00 0.89 None None . . . None ACSF3|0.012049699|79.2%
View trf_44289 16 rs3743979
dbSNP Clinvar
89180883 1505.08 G A PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.29186 0.10 0.63 1.62 None None .,. .,. .,. None ACSF3|0.012049699|79.2%

ACSL5

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs3736946
dbSNP Clinvar
114169276 1651.64 A G PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.06949 0.06949 0.08804 1.00 0.00 -1.48 None None . . . None ACSL5|0.090893632|53.06%

ACSM2A

Omim - GeneCards - NCBI
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RsId
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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%

ACSS1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 20 rs6050249
dbSNP Clinvar
24994289 288.17 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.16394 0.16390 0.22605 0.10 0.10 2.03 None None . . . None ACSS1|0.048821607|63.01%

ADCK2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs1140034
dbSNP Clinvar
140374049 544.05 T C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.31550 0.31550 0.28010 1.00 0.00 0.02 None None .,. .,. .,. None ADCK2|0.011976482|79.27%
View trf_44289 7 rs2968558
dbSNP Clinvar
140373326 458.56 A G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.31669 0.31670 0.26958 0.73 0.00 0.48 None None . . . None DENND2A|0.040367086|65.64%,ADCK2|0.011976482|79.27%

ADCK5

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 8 rs6599528
dbSNP Clinvar
145603114 1104.67 A C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.82 0.00 -1.09 None None . . . None ADCK5|0.009712798|81.05%

ADHFE1

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 8 rs1060242
dbSNP Clinvar
67380528 1056.8 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.57947 0.57950 0.44349 1.00 0.00 -0.40 None None . . . None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%

ADO

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 10 rs10995311
dbSNP Clinvar
64564934 529.1 C G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.30918 0.16 0.02 1.29 None None . . . None ADO|0.461596231|17.6%
View trf_44289 10 rs2236295
dbSNP Clinvar
64564892 112.64 G T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.21166 0.21170 0.26402 0.09 0.53 3.40 None None . . . None ADO|0.461596231|17.6%

AGMAT

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 1 rs6429757
dbSNP Clinvar
15909850 213.9 C G PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.63319 0.63320 0.34615 1.00 0.00 -1.91 None None . . . None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View trf_44289 1 rs11580170
dbSNP Clinvar
15909744 567.67 C T PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.27236 0.27240 0.34146 0.60 0.01 0.79 None None . . . None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%

AGXT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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%
View trf_44289 5 rs17245714
dbSNP Clinvar
34998894 1194.57 G C PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.05290 0.13 0.00 1.25 None None . . . None AGXT2|0.105323014|50.19%
View trf_44289 5 rs37370
dbSNP Clinvar
35039486 912.09 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.07220 0.36 0.00 2.04 None None . . . None AGXT2|0.105323014|50.19%
View trf_44289 5 rs37369
dbSNP Clinvar
35037115 974.54 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.39357 0.39360 0.23897 1.00 0.00 -1.93 None None . . . None AGXT2|0.105323014|50.19%

AKAP10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 17 rs2108978
dbSNP Clinvar
19861458 2165.25 C T PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 -1.73 None None . . . None AKAP10|0.479048269|16.82%
View trf_44289 17 rs203462
dbSNP Clinvar
19812541 1011.22 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 0.43 None None . . . None AKAP10|0.479048269|16.82%

ALDH1B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs2073478
dbSNP Clinvar
38396065 993.31 G T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.13 3.48 None None . . . None ALDH1B1|0.096225216|51.9%
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%
View trf_44289 9 rs2228093
dbSNP Clinvar
38396002 991.7 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.23043 0.23040 0.12417 0.00 0.99 4.86 None None . . . None ALDH1B1|0.096225216|51.9%

ALDH5A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 6 rs62621664
dbSNP Clinvar
24505196 1263.83 G T PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.01392 0.00 1.00 4.38 None None . . . None ALDH5A1|0.036674729|66.91%

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 5 rs3195676
dbSNP Clinvar
34008100 899.95 C T PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.28694 0.28690 0.41759 0.01 0.13 3.34 None None rs3195676 3 not_specified None AMACR|0.038358163|66.34%
View trf_44289 5 rs10941112
dbSNP Clinvar
34004707 482.2 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.25260 0.25260 0.38421 0.02 0.62 1.52 0.02 0.4057 T rs10941112 3 not_specified None AMACR|0.038358163|66.34%
View trf_44289 5 rs2287939
dbSNP Clinvar
33998883 2125.19 A G PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.71486 0.71490 0.25135 0.33 0.01 -1.52 None None rs2287939 3 not_specified None AMACR|0.038358163|66.34%

ANKRD26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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%

APOA1BP

Omim - GeneCards - NCBI
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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%

APOE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs429358
dbSNP Clinvar
45411941 316.32 T C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.15056 0.15060 0.14163 1.00 0.00 -1.97 None None rs429358 5|5|5|5|5 Familial_type_3_hyperlipoproteinemia|ALZHEIMER_DISEASE_2\x2c_DUE_TO_APOE4_ISOFORM|Familial_type_3_hyperlipoproteinemia|APOE4(-)-FREIBURG|APOE4_VARIANT None APOE|0.925476831|2.86%

APOPT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs2274268
dbSNP Clinvar
104029378 78.07 C G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.23463 0.23460 0.26937 0.22 0.00 1.57 None None .,. .,. .,. None KLC1|0.436707897|18.85%,APOPT1|0.014771231|77.31%

ARSA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 22 rs743616
dbSNP Clinvar
51064039 933.43 G C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.40555 0.40560 0.48408 0.42 0.00 0.81 None None rs743616 5|2 Metachromatic_leukodystrophy|not_specified None ARSA|0.046995067|63.58%
View trf_44289 22 rs6151415
dbSNP Clinvar
51065361 861.4 C A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.01897 0.01897 0.05678 0.05 0.89 2.84 None None rs6151415 2 not_specified None ARSA|0.046995067|63.58%
View trf_44289 22 rs2071421
dbSNP Clinvar
51064416 460.78 T C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.22484 0.22480 0.18228 0.28 0.01 2.71 None None rs2071421 2|5 ARYLSULFATASE_A_POLYMORPHISM|Metachromatic_leukodystrophy None ARSA|0.046995067|63.58%

ATIC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 2 rs2372536
dbSNP Clinvar
216190020 658.07 C G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.27776 0.27780 0.24681 0.11 0.01 3.07 None None . . . None ATIC|0.948730799|2.29%

ATP10D

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs17462252
dbSNP Clinvar
47570876 790.59 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.01957 0.01957 0.04821 0.98 0.00 -0.12 None None . . . None ATP10D|0.06998296|57.49%
View trf_44289 4 rs4145944
dbSNP Clinvar
47593283 1445.99 G C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 -0.94 None None . . . None ATP10D|0.06998296|57.49%
View trf_44289 4 rs33995001
dbSNP Clinvar
47514685 4278.27 C T PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.07 0.31 None None . . . None ATP10D|0.06998296|57.49%
View trf_44289 4 rs16851681
dbSNP Clinvar
47578971 4897.11 G A PASS 1/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.28195 0.28190 0.27057 1.00 0.00 -1.17 None None . . . None ATP10D|0.06998296|57.49%

ATP5SL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs2231943
dbSNP Clinvar
41938222 769.41 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.01607 0.18 0.02 -0.19 None None . . . None ATP5SL|0.004191665|86.74%
View trf_44289 19 rs1043413
dbSNP Clinvar
41939297 642.73 C G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.50679 0.50680 0.44787 0.04 0.00 0.87 None None . . . None ATP5SL|0.004191665|86.74%
View trf_44289 19 rs2231940
dbSNP Clinvar
41944237 1601.75 T C PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.38538 0.38540 0.33508 0.93 0.02 -0.77 None None . . . None ATP5SL|0.004191665|86.74%

ATP7B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 13 rs1801249
dbSNP Clinvar
52515354 3954.9 A G PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.54054 0.54050 0.42244 1.00 0.00 -1.74 None None rs1801249 3|2 Wilson's_disease|not_specified None ATP7B|0.044059753|64.5%
View trf_44289 13 rs1801243
dbSNP Clinvar
52548140 5296.89 A C PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.37620 0.37620 0.40122 0.79 0.01 2.62 None None rs1801243 2|2 Wilson's_disease|not_specified None ATP7B|0.044059753|64.5%
View trf_44289 13 rs1061472
dbSNP Clinvar
52524488 4181.56 T C PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.50240 0.50240 0.44783 0.07 0.22 3.42 None None rs1061472 2|2 Wilson's_disease|not_specified None ATP7B|0.044059753|64.5%
View trf_44289 13 rs732774
dbSNP Clinvar
52523808 5328.05 C T PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.53095 0.53100 0.42835 1.00 0.00 1.51 None None rs732774 2|2 Wilson's_disease|not_specified None ATP7B|0.044059753|64.5%
View trf_44289 13 rs1801244
dbSNP Clinvar
52544805 2474.67 C G PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.40522 0.45 0.00 1.54 None None rs1801244 3|2 Wilson's_disease|not_specified None ATP7B|0.044059753|64.5%

ATP8B1

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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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%

ATXN7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 3 rs3774729
dbSNP Clinvar
63982082 1054.81 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.43770 0.43770 0.39069 1.00 0.02 -0.63 None None rs3774729 3 not_specified None ATXN7|0.45901663|17.72%

C14orf159

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 14 rs4900072
dbSNP Clinvar
91636532 490.89 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.16713 0.16710 0.27741 1.00 0.00 -0.60 None None .,. .,. .,. None C14orf159|0.005784406|84.85%

C21orf33

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 21 rs968714
dbSNP Clinvar
45553596 2611.03 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 -0.31 None None . . . None C21orf33|0.016835395|76%

C9orf114

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 9 rs2280843
dbSNP Clinvar
131585069 1068.33 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.60383 0.60380 0.37801 1.00 0.00 -0.39 None None .,. .,. .,. None C9orf114|0.115068599|48.31%

CACNA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 19 rs16022
dbSNP Clinvar
13409696 205.73 C G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.09783 0.80 -0.27 None None rs16022 3 not_specified None CACNA1A|0.210424701|35.52%
View trf_44289 19 rs16023
dbSNP Clinvar
13409472 20.74 T A PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.11442 0.11440 0.11666 0.61 1.31 None None rs16023 3 not_specified None CACNA1A|0.210424701|35.52%
View trf_44289 19 rs16027
dbSNP Clinvar
13397560 371.21 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.10044 0.10040 0.07390 0.94 -0.04 None None . . . None CACNA1A|0.210424701|35.52%

CACNA1S

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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%

CASP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 2 rs3769823
dbSNP Clinvar
202122995 1193.91 A G PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.64637 0.64640 0.33053 0.01 1.63 None None . . . None CASP8|0.814767746|5.46%
View trf_44289 2 rs1045485
dbSNP Clinvar
202149589 1794.78 G C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.05272 0.05272 0.10972 0.07 0.00 1.20 None None . . . None CASP8|0.814767746|5.46%

CBR4

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 4 rs2877380
dbSNP Clinvar
169928842 1225.69 G T PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.72005 0.72000 0.33264 0.22 0.01 2.62 None None . . . None CBR4|0.148986414|43.14%

CCDC136

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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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%

CCDC90B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs494791
dbSNP Clinvar
82996986 1394.97 A C PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.67772 0.67770 0.26484 1.00 0.00 0.02 None None . . . None CCDC90B|0.453044995|18.02%

CDC42BPA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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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%
View trf_44289 1 rs1929860
dbSNP Clinvar
227216775 2115.12 C T PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.28015 0.28020 0.28241 1.00 0.00 -0.58 None None .,. .,. .,. None CDC42BPA|0.577554546|12.69%

CDC42BPG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 11 rs3741395
dbSNP Clinvar
64597506 784.33 T C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.31649 0.31650 0.49307 0.18 0.00 1.09 None None . . . None CDC42BPG|0.040902186|65.46%

CFTR

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 7 rs213950
dbSNP Clinvar
117199533 1314.5 G A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.58207 0.58210 0.40235 1.00 0.00 -0.41 None None rs213950 2 Cystic_fibrosis None CFTR|0.947527653|2.33%

CHAT

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 rs3810950
dbSNP Clinvar
50824619 1253.11 G A PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.16054 0.16050 0.18238 0.44 0.01 0.37 None None rs3810950 2 not_specified None CHAT|0.652613184|10%

CHDH

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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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%

CLCN1

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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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%

CLCN2

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 rs9820367
dbSNP Clinvar
184071063 3334.26 G C PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.46126 0.46130 0.40620 0.84 0.00 -0.50 None None . . . None EIF2B5|0.736636231|7.47%,CLCN2|0.338481257|24.94%

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 rs2015352
dbSNP Clinvar
16371067 1403.61 G T PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.55551 0.55550 0.47370 0.01 0.11 2.47 None None . . . None CLCNKB|0.024900854|71.85%
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%
View trf_44289 1 rs143663847
dbSNP Clinvar
16382201 848.02 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.01677 0.01677 0.00984 0.00 1.00 3.51 None None . . . None CLCNKB|0.024900854|71.85%
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%
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%
View trf_44289 1 rs2275166
dbSNP Clinvar
16380243 1060.09 A G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.29917 1.00 0.00 -0.77 None None . . . None CLCNKB|0.024900854|71.85%

CLN5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View trf_44289 13 rs138611001
dbSNP Clinvar
77574606 1390.61 C A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.01030 0.05 1.00 2.01 None None . . . None CLN5|0.079356583|55.32%,FBXL3|0.526378926|14.71%
View trf_44289 13 rs1800209
dbSNP Clinvar
77574983 1100.37 A G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.18826 1.00 0.00 -0.36 None None rs1800209 3 not_specified None CLN5|0.079356583|55.32%,FBXL3|0.526378926|14.71%
View trf_44289 13 rs77416795
dbSNP Clinvar
77566090 470.64 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.13938 0.13940 0.10482 0.00 2.41 None None rs77416795 3 not_specified None CLN5|0.079356583|55.32%

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%
View trf_44289 13 rs34411915
dbSNP Clinvar
100543648 483.41 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00459 0.00459 0.00492 0.08 0.00 1.77 None None . . . None CLYBL|0.43420364|18.99%

COA6

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 rs10910420
dbSNP Clinvar
234509259 491.79 G C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.08 0.00 1.13 None None . . . None COA6|0.020767502|73.81%

COQ2

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 rs6818847
dbSNP Clinvar
84205872 310.92 C A PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.64976 0.64980 0.31481 0.33 0.00 0.28 None None rs6818847 3|2 not_specified|not_provided None COQ2|0.032632343|68.33%

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%
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%

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%

COQ6

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 rs8500
dbSNP Clinvar
74428445 4433.36 G A PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.34545 0.34540 0.38452 0.79 0.00 0.84 None None rs8500 3|2 not_specified|not_provided None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%