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Genes:
ABAT, ABCA9, ABCB8, ACAA1, ACACB, ACAD10, ACADL, ACADS, ACAT2, ACLY, ACO1, ACO2, ACSF2, ACSF3, ACSL1, ACSM1, ACSM2A, ACSM4, ACSM5, ACSS1, ADCK4, ADHFE1, AGPAT5, AGXT, AGXT2, AKAP1, AKAP10, AKR1B15, AKR7A2, ALDH18A1, ALDH1B1, ALDH1L1, ALDH4A1, ALDH5A1, ALDH7A1, ALDH9A1, AMACR, ARMC1, ARMC4, ASS1, ATAD3A, ATAD3B, ATP10D, ATP5O, ATP5S, ATP5SL, ATP7B, BAD, BCAT2, BCKDHA, BCL2, BCL2L13, BCS1L, BDH1, C10orf10, C12orf65, C14orf159, C14orf2, CARS2, CCBL2, CCDC51, CCDC90B, CDC42BPA, CERK, CHDH, CLPX, CLYBL, COQ2, COQ6, COQ7, COX10, COX15, COX18, COX4I2, COX6C, CPS1, CPT1A, CPT1B, CPT2, CROT, CTU1, CYP24A1, DCAF5, DDAH1, DHODH, DHRS1, DHRS4, DHTKD1, DISC1, DLAT, DLD, DLST, DMGDH, DNM1L, DTNBP1, ECHS1, ECI1, EHHADH, ELN, ETFB, FAM136A, FAM65C, FARS2, FASN, FBP1, FDXR, FECH, FOXC1, GALC, GARS, GCAT, GCDH, GFM1, GK, GK2, GLO1, GLRX, GLRX5, GLS2, GLYCTK, GNAS, GOT2, GPAM, GPD1, GPX1, GUF1, HADHB, HK1, HK2, HOGA1, HRSP12, HSDL1, HSPA9, HSPD1, HTT, IDE, IDH1, IDH3A, IMMT, IQCE, IVD, KIF1B, KRT5, KYNU, L2HGDH, LACTB, LAMTOR5, LDHA, LDHAL6B, LONP1, LRRK2, LUC7L2, LYRM2, MCUR1, MFN2, MGME1, MIEF1, MMAB, MMACHC, MOCS1, MPC2, MRPL10, MRPL11, MRPL14, MRPL22, MRPL28, MRPL35, MRPL43, MRPL45, MRPL47, MRPL51, MRPL52, MRPL54, MRPS24, MRPS30, MRPS35, MRPS7, MRS2, MSRB2, MTCH2, MTERF, MTFMT, MTIF2, MTRF1, MTRF1L, MUL1, MUT, MUTYH, NCOA4, NDUFA10, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF4, NDUFB1, NDUFS4, NEU4, NFU1, NFXL1, NIF3L1, NIPSNAP3A, NIPSNAP3B, NLRX1, NNT, NOP56, NRF1, NT5C, OAT, OGDHL, OGG1, OPA3, OXA1L, OXNAD1, PAH, PANK2, PARS2, PCK1, PDE12, PDHB, PDK1, PDK2, PDPR, PET112, PHYH, PHYKPL, PINK1, PMPCA, PNKD, PNPT1, POLDIP2, POLRMT, PPA2, PPTC7, PRDX3, PRICKLE4, PRODH, PSTK, PTGR2, PTRH1, QDPR, QRSL1, RAB11B, RARS, RARS2, REEP1, RHOT1, RHOT2, RMDN1, RMND1, RNASEL, RNMTL1, RPS14, RRM2B, RSAD1, RTN4IP1, SARDH, SCCPDH, SCO2, SDHAF1, SFXN4, SHMT2, SIRT5, SLC16A1, SLC22A4, SLC22A5, SLC25A10, SLC25A24, SLC25A29, SLC25A31, SLC25A33, SLC25A34, SLC25A37, SLC25A39, SLC25A42, SLC25A46, SLC25A48, SLC25A5, SLC3A1, SLIRP, SND1, SNPH, SOD1, SQRDL, SUGCT, TAMM41, TAP1, TARS2, TBRG4, TFAM, TFB2M, TIMM10B, TIMM50, TIMMDC1, TMEM11, TMEM160, TMEM70, TMTC1, TOMM40, TOP1MT, TP53, TPH2, TPI1, TRAP1, TRIT1, TSFM, TSHZ3, TXNRD1, TXNRD2, TYMP, UCP2, UCP3, VAMP8, VARS2, WFS1, WWOX, YARS2, ZBED5,

Genes at Omim

ABAT, ACADS, ACAT2, ACO2, ACSF3, AGXT, AGXT2, AKAP10, ALDH18A1, ALDH4A1, ALDH5A1, ALDH7A1, AMACR, ARMC4, ASS1, ATAD3A, ATP7B, BCAT2, BCKDHA, BCL2, BCS1L, C12orf65, CARS2, CLPX, COQ2, COQ6, COQ7, COX10, COX15, COX4I2, CPS1, CPT1A, CPT2, CYP24A1, DHODH, DHTKD1, DISC1, DLAT, DLD, DMGDH, DNM1L, DTNBP1, ECHS1, EHHADH, ELN, ETFB, FARS2, FBP1, FDXR, FECH, FOXC1, GALC, GARS, GCDH, GFM1, GK, GLRX5, GLYCTK, GNAS, GPD1, GPX1, GUF1, HADHB, HK1, HOGA1, HSPA9, HSPD1, HTT, IDH1, IQCE, IVD, KIF1B, KRT5, KYNU, L2HGDH, LDHA, LONP1, LRRK2, MFN2, MGME1, MMAB, MMACHC, MOCS1, MRPS7, MTFMT, MUT, MUTYH, NDUFA10, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS4, NFU1, NNT, NOP56, OAT, OGG1, OPA3, PAH, PANK2, PCK1, PDHB, PHYH, PHYKPL, PINK1, PMPCA, PNPT1, PPA2, PRODH, QDPR, RAB11B, RARS, RARS2, REEP1, RMND1, RNASEL, RPS14, RRM2B, RTN4IP1, SARDH, SCO2, SDHAF1, SFXN4, SLC16A1, SLC22A4, SLC22A5, SLC25A24, SLC25A46, SLC3A1, SOD1, TAP1, TARS2, TFAM, TIMM50, TIMMDC1, TMEM70, TP53, TPH2, TPI1, TRIT1, TSFM, TXNRD2, TYMP, UCP2, UCP3, VARS2, WFS1, WWOX, YARS2,
ABAT GABA-transaminase deficiency, 613163 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ACSF3 Combined malonic and methylmalonic aciduria, 614265 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
ASS1 Citrullinemia, 215700 (3)
ATAD3A Harel-Yoon syndrome, 617183 (3)
ATP7B Wilson disease, 277900 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
BCS1L GRACILE syndrome, 603358 (3)
Bjornstad syndrome, 262000 (3)
Leigh syndrome, 256000 (3)
Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 (3)
Spastic paraplegia 55, autosomal recessive, 615035 (3)
CARS2 Combined oxidative phosphorylation deficiency 27, 616672 (3)
CLPX ?Protoporphyria, erythropoietic, 2, 618015 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (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)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (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)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DHODH Miller syndrome, 263750 (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)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DLD Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)
Optic atrophy 5, 610708 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EHHADH ?Fanconi renotubular syndrome 3, 615605 (3)
ELN Cutis laxa, autosomal dominant, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
GALC Krabbe disease, 245200 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GK Glycerol kinase deficiency, 307030 (3)
GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
GLYCTK D-glyceric aciduria, 220120 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HOGA1 Hyperoxaluria, primary, type III, 613616 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HSPD1 Leukodystrophy, hypomyelinating, 4, 612233 (3)
Spastic paraplegia 13, autosomal dominant, 605280 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDH1 {Glioma, susceptibility to, somatic}, 137800 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
IVD Isovaleric acidemia, 243500 (3)
KIF1B {Neuroblastoma, susceptibility to, 1}, 256700 (3)
Pheochromocytoma, 171300 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
KYNU ?Hydroxykynureninuria, 236800 (3)
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LONP1 CODAS syndrome, 600373 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MFN2 Hereditary motor and sensory neuropathy VIA, 601152 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MTFMT Combined oxidative phosphorylation deficiency 15, 614947 (3)
Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
NDUFA10 Mitochondrial complex I deficiency, nuclear type 22, 618243 (3)
NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NDUFS4 Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NFU1 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OGG1 Renal cell carcinoma, clear cell, somatic, 144700 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PHYH Refsum disease, 266500 (3)
PHYKPL [?Phosphohydroxylysinuria], 615011 (3)
PINK1 Parkinson disease 6, early onset, 605909 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RARS2 Pontocerebellar hypoplasia, type 6, 611523 (3)
REEP1 ?Neuronopathy, distal hereditary motor, type VB, 614751 (3)
Spastic paraplegia 31, autosomal dominant, 610250 (3)
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 (3)
RNASEL Prostate cancer 1, 601518 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SARDH [Sarcosinemia], 268900 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Erythrocyte lactate transporter defect, 245340 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5 Carnitine deficiency, systemic primary, 212140 (3)
SLC25A24 Fontaine progeroid syndrome, 612289 (3)
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)
SLC3A1 Cystinuria, 220100 (3)
SOD1 Amyotrophic lateral sclerosis 1, 105400 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TARS2 ?Combined oxidative phosphorylation deficiency 21, 615918 (3)
TFAM ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31, 618251 (3)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TSFM Combined oxidative phosphorylation deficiency 3, 610505 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (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)
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Genes at Clinical Genomics Database

ABAT, ACADS, ACO2, ACSF3, ADCK4, AGXT, ALDH18A1, ALDH4A1, ALDH5A1, ALDH7A1, AMACR, ARMC4, ASS1, ATP7B, BCKDHA, BCS1L, CARS2, COQ2, COQ6, COQ7, COX10, COX15, COX4I2, CPS1, CPT1A, CPT2, CYP24A1, DHODH, DHTKD1, DLAT, DLD, DMGDH, DNM1L, DTNBP1, ECHS1, EHHADH, ELN, ETFB, FARS2, FBP1, FECH, FOXC1, GALC, GARS, GCDH, GFM1, GK, GLRX5, GLYCTK, GNAS, GPD1, HADHB, HK1, HOGA1, HSPA9, HSPD1, HTT, IVD, KIF1B, KRT5, KYNU, L2HGDH, LDHA, LONP1, LRRK2, MFN2, MGME1, MMAB, MMACHC, MOCS1, MTFMT, MUT, MUTYH, NDUFA10, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS4, NFU1, NNT, NOP56, OAT, OPA3, PAH, PANK2, PDHB, PHYH, PHYKPL, PINK1, PMPCA, PNPT1, PRODH, QDPR, RARS, RARS2, REEP1, RMND1, RNASEL, RRM2B, RTN4IP1, SCO2, SDHAF1, SFXN4, SLC16A1, SLC22A5, SLC25A46, SLC3A1, SOD1, SUGCT, TAP1, TARS2, TMEM70, TP53, TPI1, TRAP1, TSFM, TYMP, VARS2, WFS1, WWOX, YARS2,
ABAT GABA-transaminase deficiency
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ACSF3 Combined malonic and methylmalonic aciduria
ADCK4 Nephrotic syndrome, type 9
AGXT Hyperoxaluria, primary, type 1
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ALDH4A1 Hyperprolinemia, type II
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
ARMC4 Ciliary dyskinesia, primary, 23
ASS1 Citrullinemia
ATP7B Wilson disease
BCKDHA Maple syrup urine disease, type Ia
BCS1L Bjornstad syndrome
CARS2 Combined oxidative phosphorylation deficiency 27
COQ2 Coenzyme Q10 deficiency 1
COQ6 Coenzyme Q10 deficiency, primary 6
COQ7 Coenzyme Q10 deficiency, primary 8
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
CPS1 Carbamoylphosphate synthetase I deficiency
CPT1A Carnitine palmitoyltransferase deficiency I
CPT2 Carnitine palmitoyltransferase II deficiency
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoyl dehydrogenase deficiency
DMGDH Dimethylglycine dehydrogenase deficiency
DNM1L Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
DTNBP1 Hermansky-Pudlak syndrome 7
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EHHADH Fanconi renotubular syndrome 3
ELN Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FARS2 Combined oxidative phosphorylation deficiency 14
FBP1 Fructose-1,6-bisphosphatase deficiency
FECH Protoporphyria, erythropoietic
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
GALC Krabbe disease
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GCDH Glutaric aciduria, type I
GFM1 Combined oxidative phosphorylation deficiency 1
GK Glycerol kinase deficiency
GLRX5 Anemia, sideroblastic 3, pyridoxine-refractory
GLYCTK D-glyceric aciduria
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
GPD1 Hypertriglyceridemia, transient infantile
HADHB Trifunctional protein deficiency
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HSPA9 Anemia, sideroblastic 4
HSPD1 Spastic paraplegia-13
Leukodystrophy, hypomyelinating, 4
HTT Huntington disease
IVD Isovaleric acidemia
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KYNU Hydroxykynureninuria
L2HGDH L-2-hydroxyglutaric aciduria
LDHA Glycogen storage disease XI
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LRRK2 Parkinson disease 8
Dementia, Lewy body
MFN2 Charcot-Marie-Tooth disease, type 2A2
Hereditary motor and sensory neuropathy VIA
MGME1 Mitochondrial DNA depletion syndrome 11
MMAB Methylmalonic acidemia, cblB type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MOCS1 Molybdenum cofactor deficiency, type A
MTFMT Combined oxidative phosphorylation deficiency 15
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
NDUFA10 Mitochondrial complex I deficiency
Leigh syndrome
NDUFAF1 Mitochondrial complex I deficiency
NDUFAF2 Mitochondrial complex I deficiency
Leigh syndrome
NDUFAF4 Mitochondrial complex I deficiency
NDUFS4 Mitochondrial complex I deficiency
Leigh syndrome
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NNT Glucocorticoid deficiency 4
NOP56 Spinocerebellar ataxia 36
OAT Gyrate atrophy of choroid and retina
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PDHB Pyruvate dehydrogensae E1-beta deficiency
PHYH Refsum disease
PHYKPL Phosphohydroxylysinuria
PINK1 Parkinson disease 6, autosomal recessive, early onset
PMPCA Spinocerebellar ataxia, autosomal recessive 2
PNPT1 Deafness, autosomal recessive 70
PRODH Hyperprolinemia, type I
QDPR Hyperphenylalaninemia, BH4-deficient, C
RARS Leukodystrophy, hypomyelinating 9
RARS2 Pontocerebellar hypoplasia, type 6
REEP1 Spastic paraplegia 31
Distal hereditary motor neuronopathy VB
RMND1 Combined oxidative phosphorylation deficiency 11
RNASEL Prostate cancer, hereditary, 1
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SDHAF1 Mitochondrial complex II deficiency
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC22A5 Carnitine deficiency, systemic primary
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC3A1 Cystinuria
SOD1 Amyotrophic lateral sclerosis
Keratoconus
SUGCT Glutaric aciduria III
TAP1 Bare lymphocyte syndrome, type I
TARS2 Combined oxidative phosphorylation deficiency 21
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TPI1 Triosephosphate isomerase deficiency
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TSFM Combined oxidative phosphorylation deficiency 3
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
VARS2 Combined oxidative phosphorylation deficiency 20
WFS1 Wolfram syndrome
WWOX Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 611
Number of Genes: 317

Export to: CSV

ABAT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 16 rs1641022
dbSNP Clinvar
8868776 9698.01 C A PASS 0/1 742 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.32261 None None None None None None ABAT|0.163825558|41.04%

ABCA9

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 17 rs1860447
dbSNP Clinvar
67031457 9380.01 C T PASS 0/1 826 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%

ABCB8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 7 rs56198402
dbSNP Clinvar
150739054 6381.01 G A PASS 0/1 799 NON_SYNONYMOUS_CODING MODERATE None 0.02656 0.02656 0.02937 0.27 0.08 None None None None None None ABCB8|0.062047001|59.3%
View gpp10314_20120828021333_nucseek 7 rs61741011
dbSNP Clinvar
150742388 2737.01 A C PASS 0/1 184 SYNONYMOUS_CODING LOW None 0.05931 0.05931 0.05044 None None None None None None ABCB8|0.062047001|59.3%
View gpp10314_20120828021333_nucseek 7 rs59397762
dbSNP Clinvar
150742408 3577.01 G T PASS 0/1 261 NON_SYNONYMOUS_CODING MODERATE None 0.02736 0.02736 0.04467 0.03 0.08 None None None None None None ABCB8|0.062047001|59.3%
View gpp10314_20120828021333_nucseek 7 rs4148844
dbSNP Clinvar
150730999 9984.01 G A PASS 0/1 818 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.05221 0.79 0.00 None None None None None None ABCB8|0.062047001|59.3%
View gpp10314_20120828021333_nucseek 7 rs17545756
dbSNP Clinvar
150732812 10546.01 C T PASS 0/1 789 NON_SYNONYMOUS_CODING MODERATE None 0.02716 0.02716 0.04483 0.00 0.98 None None None None None None ABCB8|0.062047001|59.3%

ACAA1

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 gpp10314_20120828021333_nucseek 3 rs156265
dbSNP Clinvar
38170810 14768.01 C G PASS 0/1 1321 NON_SYNONYMOUS_CODING MODERATE None 0.13678 0.13680 0.11203 0.30 0.00 None None None None None None ACAA1|0.152807913|42.57%

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 gpp10314_20120828021333_nucseek 12 rs3742023
dbSNP Clinvar
109693982 6611.01 C T PASS 0/1 636 SYNONYMOUS_CODING LOW None 0.25519 0.25520 0.28933 None None None None None None ACACB|0.108212697|49.54%

ACAD10

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 12 rs34245489
dbSNP Clinvar
112186274 10412.01 C T PASS 0/1 1093 NON_SYNONYMOUS_CODING MODERATE None 0.01358 0.01358 0.03176 0.04 0.77 None None None None None None ACAD10|0.026374196|71.16%

ACADL

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 gpp10314_20120828021333_nucseek 2 rs377085604
dbSNP Clinvar
211068107 192.01 C A PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.00054 0.10 1.00 None None None None None None ACADL|0.141427915|44.21%

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 12 rs3914
dbSNP Clinvar
121174899 10663.01 T C PASS 0/1 1134 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View gpp10314_20120828021333_nucseek 12 rs3915
dbSNP Clinvar
121176679 11343.01 C T PASS 0/1 1071 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View gpp10314_20120828021333_nucseek 12 rs1799958
dbSNP Clinvar
121176083 7140.01 G A PASS 0/1 563 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.34 None None None None None None ACADS|0.070436549|57.39%

ACAT2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 6 rs3465
dbSNP Clinvar
160198395 9346.01 G A PASS 0/1 713 SYNONYMOUS_CODING LOW None 0.23522 0.23520 0.31955 None None None None None None ACAT2|0.090493467|53.12%
View gpp10314_20120828021333_nucseek 6 rs3464
dbSNP Clinvar
160198359 7061.01 C T PASS 0/1 363 SYNONYMOUS_CODING LOW None 0.26118 0.26120 0.17992 None None None None None None ACAT2|0.090493467|53.12%
View gpp10314_20120828021333_nucseek 6 rs25683
dbSNP Clinvar
160196343 2226.01 A G PASS 0/1 217 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None ACAT2|0.090493467|53.12%

ACLY

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 17 rs2304497
dbSNP Clinvar
40065774 4141.01 T G PASS 0/1 370 NON_SYNONYMOUS_CODING MODERATE None 0.09405 0.09405 0.10549 0.66 0.00 None None None None None None ACLY|0.44685425|18.3%

ACO1

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 gpp10314_20120828021333_nucseek 9 rs3780473
dbSNP Clinvar
32425910 2461.01 A G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.35383 0.35380 0.32693 None None None None None None ACO1|0.412115925|20.03%

ACO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 22 rs1799932
dbSNP Clinvar
41911525 9079.01 C T PASS 0/1 605 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ACSF2

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 gpp10314_20120828021333_nucseek 17 rs9674937
dbSNP Clinvar
48539035 3452.01 T C PASS 0/1 245 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%
View gpp10314_20120828021333_nucseek 17 rs2305998
dbSNP Clinvar
48549791 8947.01 C G PASS 0/1 829 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ACSF3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 16 rs12447947
dbSNP Clinvar
89199651 18182.01 G A PASS 0/1 1853 SYNONYMOUS_CODING LOW None 0.14537 0.14540 0.26277 None None None None None None ACSF3|0.012049699|79.2%

ACSL1

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 gpp10314_20120828021333_nucseek 4 rs1803898
dbSNP Clinvar
185701549 8817.01 G T PASS 0/1 849 SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.24704 None None None None None None ACSL1|0.105455707|50.16%
View gpp10314_20120828021333_nucseek 4 rs11727009
dbSNP Clinvar
185687863 11123.01 A G PASS 0/1 1091 SYNONYMOUS_CODING LOW None 0.21486 0.21490 0.23089 None None None None None None ACSL1|0.105455707|50.16%
View gpp10314_20120828021333_nucseek 4 rs34107464
dbSNP Clinvar
185686065 11378.01 G A PASS 0/1 1161 SYNONYMOUS_CODING LOW None 0.00998 0.00998 0.01484 None None None None None None ACSL1|0.105455707|50.16%
View gpp10314_20120828021333_nucseek 4 rs2292898
dbSNP Clinvar
185686032 21563.01 C T PASS 0/1 2117 SYNONYMOUS_CODING LOW None 0.83147 0.83150 0.25442 None None None None None None ACSL1|0.105455707|50.16%

ACSM1

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 gpp10314_20120828021333_nucseek 16 rs2301672
dbSNP Clinvar
20636814 11749.01 G A PASS 0/1 1073 SYNONYMOUS_CODING LOW None 0.18031 0.18030 0.09468 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View gpp10314_20120828021333_nucseek 16 rs3743690
dbSNP Clinvar
20635418 10360.01 C T PASS 0/1 983 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18371 0.18370 0.09722 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View gpp10314_20120828021333_nucseek 16 rs1692729
dbSNP Clinvar
20638576 8055.01 A T PASS 0/1 700 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.46293 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%

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 gpp10314_20120828021333_nucseek 16 rs59292608
dbSNP Clinvar
20471450 1241.01 G A PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.16953 0.16950 0.10834 0.35 0.01 None None None None None None ACSM2A|0.005190474|85.6%
View gpp10314_20120828021333_nucseek 16 rs7187246
dbSNP Clinvar
20476852 9446.01 T C PASS 0/1 1153 NON_SYNONYMOUS_CODING MODERATE None 0.50559 0.50560 0.38667 1.00 0.00 None None None None None None ACSM2A|0.005190474|85.6%
View gpp10314_20120828021333_nucseek 16 rs1700805
dbSNP Clinvar
20488696 87.01 A G PASS 0/1 14 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACSM4

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 gpp10314_20120828021333_nucseek 12 rs7968241
dbSNP Clinvar
7463241 6390.01 A T PASS 0/1 712 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ACSM5

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 gpp10314_20120828021333_nucseek 16 rs8063682
dbSNP Clinvar
20441084 396.01 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.54253 0.54250 0.43532 None None None None None None ACSM5|0.017561285|75.57%
View gpp10314_20120828021333_nucseek 16 rs8062344
dbSNP Clinvar
20441053 205.01 C G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.43910 0.43910 0.40135 0.00 0.96 None None None None None None ACSM5|0.017561285|75.57%

ACSS1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 20 rs6115001
dbSNP Clinvar
24994275 5885.01 G A PASS 0/1 573 SYNONYMOUS_CODING LOW None 0.07568 0.07568 0.10403 None None None None None None ACSS1|0.048821607|63.01%
View gpp10314_20120828021333_nucseek 20 rs6050259
dbSNP Clinvar
25011423 7411.01 T C PASS 0/1 723 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%
View gpp10314_20120828021333_nucseek 20 rs6115003
dbSNP Clinvar
25000734 7990.01 G A PASS 0/1 721 SYNONYMOUS_CODING LOW None 0.10903 0.10900 0.13609 None None None None None None ACSS1|0.048821607|63.01%

ADCK4

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 gpp10314_20120828021333_nucseek 19 rs4803357
dbSNP Clinvar
41209689 5991.01 G A PASS 0/1 363 SYNONYMOUS_CODING LOW None 0.01538 0.01538 0.02337 None None None None None None ADCK4|0.043749388|64.59%
View gpp10314_20120828021333_nucseek 19 rs56276635
dbSNP Clinvar
41197997 5572.01 G A PASS 0/1 574 SYNONYMOUS_CODING LOW None 0.01018 0.01018 0.00446 None None None None None None ADCK4|0.043749388|64.59%
View gpp10314_20120828021333_nucseek 19 rs139130454
dbSNP Clinvar
41198270 4638.01 G A PASS 0/1 499 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00247 None None None None None None ADCK4|0.043749388|64.59%
View gpp10314_20120828021333_nucseek 19 rs3865452
dbSNP Clinvar
41211056 8540.01 T C PASS 0/1 737 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%
View gpp10314_20120828021333_nucseek 19 rs11673492
dbSNP Clinvar
41220529 15445.01 C T PASS 0/1 1402 SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.17146 None None None None None None ADCK4|0.043749388|64.59%
View gpp10314_20120828021333_nucseek 19 rs11538384
dbSNP Clinvar
41220029 10232.01 G A PASS 0/1 934 NON_SYNONYMOUS_CODING MODERATE None 0.01418 0.01418 0.02345 0.01 0.97 None None None None None None ADCK4|0.043749388|64.59%

ADHFE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 8 rs1060242
dbSNP Clinvar
67380528 6529.01 T C PASS 0/1 543 NON_SYNONYMOUS_CODING MODERATE None 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%

AGPAT5

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 gpp10314_20120828021333_nucseek 8 rs17078008
dbSNP Clinvar
6590126 14491.01 A G PASS 0/1 1417 SYNONYMOUS_CODING LOW None 0.04014 0.04014 0.03944 None None None None None None None

AGXT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gpp10314_20120828021333_nucseek 2 rs4426527
dbSNP Clinvar
241817516 11072.01 A G PASS 0/1 847 NON_SYNONYMOUS_CODING MODERATE None 0.11122 0.11120 0.15916 1.00 0.00 None None None None None None AGXT|0.028700088|70.08%
View gpp10314_20120828021333_nucseek 2 rs33958047
dbSNP Clinvar
241813453 5563.01 G A PASS 0/1 592 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15316 0.15320 0.13171 None None None None None None AGXT|0.028700088|70.08%
View gpp10314_20120828021333_nucseek 2 rs35698882
dbSNP Clinvar
241808685 5535.01 C T PASS 0/1 381 SYNONYMOUS_CODING LOW None 0.08127 0.08127 0.15647 None None None None None None AGXT|0.028700088|70.08%
View gpp10314_20120828021333_nucseek 2 rs34116584
dbSNP Clinvar
241808314 12075.01 C T PASS 0/1 1148 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.15528 0.00 1.00 None None None None None None AGXT|0.028700088|70.08%

AGXT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 gpp10314_20120828021333_nucseek 5 rs16899974
dbSNP Clinvar
34998877 2598.01 C A PASS 0/1 413 NON_SYNONYMOUS_CODING MODERATE None 0.23562 0.23560 0.17723 0.29 0.01 None None None None None None AGXT2|0.105323014|50.19%
View gpp10314_20120828021333_nucseek 5 rs17245714
dbSNP Clinvar
34998894 4275.01 G C PASS 0/1 325 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.05290 0.13 0.00 None None None None None None AGXT2|0.105323014|50.19%
View gpp10314_20120828021333_nucseek 5 rs37369
dbSNP Clinvar
35037115 4715.01 C T PASS 0/1 289 NON_SYNONYMOUS_CODING MODERATE None 0.39357 0.39360 0.23897 1.00 0.00 None None None None None None AGXT2|0.105323014|50.19%
View gpp10314_20120828021333_nucseek 5 rs2279651
dbSNP Clinvar
35039437 13108.01 A G PASS 0/1 1155 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%
View gpp10314_20120828021333_nucseek 5 rs37370
dbSNP Clinvar
35039486 19323.01 C T PASS 0/1 1917 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.07220 0.36 0.00 None None None None None None AGXT2|0.105323014|50.19%

AKAP1

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 gpp10314_20120828021333_nucseek 17 rs2230772
dbSNP Clinvar
55183203 8900.01 T C PASS 0/1 825 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View gpp10314_20120828021333_nucseek 17 rs17833723
dbSNP Clinvar
55183195 8680.01 C T PASS 0/1 829 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.01976 0.18 0.00 None None None None None None AKAP1|0.039700237|65.85%
View gpp10314_20120828021333_nucseek 17 rs1050515
dbSNP Clinvar
55183716 4776.01 T C PASS 0/1 508 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10

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 gpp10314_20120828021333_nucseek 17 rs203462
dbSNP Clinvar
19812541 5517.01 T C PASS 0/1 575 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%
View gpp10314_20120828021333_nucseek 17 rs2108978
dbSNP Clinvar
19861458 8278.01 C T PASS 0/1 531 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%

AKR1B15

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 gpp10314_20120828021333_nucseek 7 rs6467538
dbSNP Clinvar
134264286 7088.01 C T PASS 0/1 756 SYNONYMOUS_CODING LOW None 0.33566 0.33570 0.39942 None None None None None None AKR1B15|0.005314714|85.4%

AKR7A2

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 gpp10314_20120828021333_nucseek 1 rs1043657
dbSNP Clinvar
19635011 546.01 C T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.03754 0.03754 0.07243 0.01 0.85 None None None None None None AKR7A2|0.038930716|66.13%

ALDH18A1

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 gpp10314_20120828021333_nucseek 10 rs2275272
dbSNP Clinvar
97388162 13521.01 G A PASS 0/1 803 NON_SYNONYMOUS_CODING MODERATE None 0.07169 0.07169 0.10118 0.07 0.75 None None None None None None ALDH18A1|0.458870791|17.74%

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 gpp10314_20120828021333_nucseek 9 rs2073478
dbSNP Clinvar
38396065 6980.01 G T PASS 0/1 397 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.13 None None None None None None ALDH1B1|0.096225216|51.9%

ALDH1L1

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 gpp10314_20120828021333_nucseek 3 rs4646750
dbSNP Clinvar
125826003 756.01 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.06470 0.06470 0.08934 0.18 0.00 None None None None None None ALDH1L1|0.039465558|65.93%
View gpp10314_20120828021333_nucseek 3 rs2276724
dbSNP Clinvar
125854409 8708.01 T C PASS 0/1 785 NON_SYNONYMOUS_CODING MODERATE None 0.15435 0.15440 0.15208 0.02 0.10 None None None None None None ALDH1L1|0.039465558|65.93%
View gpp10314_20120828021333_nucseek 3 rs2305230
dbSNP Clinvar
125856695 10701.01 C A PASS 0/1 950 SYNONYMOUS_CODING LOW None 0.24481 0.24480 0.24058 None None None None None None ALDH1L1|0.039465558|65.93%

ALDH4A1

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 gpp10314_20120828021333_nucseek 1 rs2230706
dbSNP Clinvar
19202926 7989.01 T C PASS 0/1 681 SYNONYMOUS_CODING LOW None 0.66014 0.66010 0.37865 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10314_20120828021333_nucseek 1 rs2230705
dbSNP Clinvar
19203997 6075.01 C G PASS 0/1 577 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10314_20120828021333_nucseek 1 rs2230709
dbSNP Clinvar
19201928 1473.01 C T PASS 0/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04792 0.04792 0.11203 0.56 0.01 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10314_20120828021333_nucseek 1 rs2230708
dbSNP Clinvar
19201956 1154.01 A G PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10314_20120828021333_nucseek 1 rs7550938
dbSNP Clinvar
19202917 8543.01 T C PASS 0/1 686 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

ALDH5A1

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 gpp10314_20120828021333_nucseek 6 rs2760118
dbSNP Clinvar
24503590 10539.01 C T PASS 0/1 969 NON_SYNONYMOUS_CODING MODERATE None 0.31470 0.31470 0.37121 0.11 0.00 None None None None None None ALDH5A1|0.036674729|66.91%

ALDH7A1

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 gpp10314_20120828021333_nucseek 5 rs12514417
dbSNP Clinvar
125887715 2102.01 T G PASS 0/1 208 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09685 0.09685 0.07374 0.20 0.01 None None None None None None ALDH7A1|0.08379131|54.47%

ALDH9A1

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 gpp10314_20120828021333_nucseek 1 rs1143661
dbSNP Clinvar
165648709 12651.01 C T PASS 0/1 1416 SYNONYMOUS_CODING LOW None 0.07927 0.07927 0.09626 None None None None None None ALDH9A1|0.055569137|61.04%
View gpp10314_20120828021333_nucseek 1 rs1143659
dbSNP Clinvar
165652273 5728.01 A G PASS 0/1 559 SYNONYMOUS_CODING LOW None 0.74621 0.74620 0.34984 None None None None None None ALDH9A1|0.055569137|61.04%

AMACR

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 gpp10314_20120828021333_nucseek 5 rs2287939
dbSNP Clinvar
33998883 4304.01 A G PASS 0/1 507 NON_SYNONYMOUS_CODING MODERATE None 0.71486 0.71490 0.25135 0.33 0.01 None None None None None None AMACR|0.038358163|66.34%
View gpp10314_20120828021333_nucseek 5 rs34677
dbSNP Clinvar
33998768 15931.01 C A PASS 0/1 1599 NON_SYNONYMOUS_CODING MODERATE None 0.11442 0.11440 0.11995 0.03 0.14 6.41 None None None None None None AMACR|0.038358163|66.34%

ARMC1

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 gpp10314_20120828021333_nucseek 8 rs11559265
dbSNP Clinvar
66525548 9921.01 T C PASS 0/1 750 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.24912 None None None None None None ARMC1|0.549639557|13.74%

ARMC4

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 gpp10314_20120828021333_nucseek 10 rs7893462
dbSNP Clinvar
28228865 11793.01 A G PASS 0/1 1165 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.49193 None None None None None None ARMC4|0.02617115|71.23%

ASS1

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 gpp10314_20120828021333_nucseek 9 rs1057484
dbSNP Clinvar
133364757 5164.01 T C PASS 0/1 461 SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.10288 None None None None None None ASS1|0.463790404|17.47%

ATAD3A

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 gpp10314_20120828021333_nucseek 1 rs1135025
dbSNP Clinvar
1458150 1239.01 T C PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.02676 0.02676 0.00816 None None None None None None ATAD3A|0.041035671|65.43%

ATAD3B

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 gpp10314_20120828021333_nucseek 1 rs819980
dbSNP Clinvar
1425700 7717.01 T C PASS 0/1 674 SYNONYMOUS_CODING LOW None 0.48582 0.48580 0.30288 None None None None None None ATAD3B|0.006294034|84.29%
View gpp10314_20120828021333_nucseek 1 rs819977
dbSNP Clinvar
1423267 798.01 A G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.48682 0.48680 0.30168 None None None None None None ATAD3B|0.006294034|84.29%
View gpp10314_20120828021333_nucseek 1 rs819976
dbSNP Clinvar
1421531 4380.01 C A PASS 0/1 500 SYNONYMOUS_CODING LOW None 0.48263 0.48260 0.29468 None None None None None None ATAD3B|0.006294034|84.29%

ATP10D

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 gpp10314_20120828021333_nucseek 4 rs1058793
dbSNP Clinvar
47584046 7959.01 G A PASS 0/1 687 NON_SYNONYMOUS_CODING MODERATE None 0.29952 0.29950 0.20760 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
View gpp10314_20120828021333_nucseek 4 rs1316874
dbSNP Clinvar
47589203 5414.01 G A PASS 0/1 315 SYNONYMOUS_CODING LOW None 0.17093 0.17090 0.07235 None None None None None None ATP10D|0.06998296|57.49%

ATP5O

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 gpp10314_20120828021333_nucseek 21 rs4591
dbSNP Clinvar
35281393 4255.01 A G PASS 0/1 303 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%

ATP5S

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 gpp10314_20120828021333_nucseek 14 rs2275592
dbSNP Clinvar
50788213 14020.01 C T PASS 0/1 1287 None None None 0.56889 0.56890 0.44095 1.00 0.00 None None None None None None ATP5S|0.070283776|57.43%

ATP5SL

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 gpp10314_20120828021333_nucseek 19 rs2231939
dbSNP Clinvar
41944270 3918.01 T C PASS 0/1 316 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00777 1.00 0.01 None None None None None None ATP5SL|0.004191665|86.74%
View gpp10314_20120828021333_nucseek 19 rs2231940
dbSNP Clinvar
41944237 5010.01 T C PASS 0/1 395 NON_SYNONYMOUS_CODING MODERATE None 0.38538 0.38540 0.33508 0.93 0.02 None None None None None None ATP5SL|0.004191665|86.74%
View gpp10314_20120828021333_nucseek 19 rs1043413
dbSNP Clinvar
41939297 2657.01 C G PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.50679 0.50680 0.44787 0.04 0.00 None None None None None None ATP5SL|0.004191665|86.74%

ATP7B

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 gpp10314_20120828021333_nucseek 13 rs1801244
dbSNP Clinvar
52544805 2559.01 C G PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.40522 0.45 0.00 None None None None None None ATP7B|0.044059753|64.5%
View gpp10314_20120828021333_nucseek 13 rs1801243
dbSNP Clinvar
52548140 15877.01 A C PASS 0/1 1493 NON_SYNONYMOUS_CODING MODERATE None 0.37620 0.37620 0.40122 0.79 0.01 None None None None None None ATP7B|0.044059753|64.5%
View gpp10314_20120828021333_nucseek 13 rs1801249
dbSNP Clinvar
52515354 10938.01 A G PASS 0/1 1070 NON_SYNONYMOUS_CODING MODERATE None 0.54054 0.54050 0.42244 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%
View gpp10314_20120828021333_nucseek 13 rs1061472
dbSNP Clinvar
52524488 8249.01 T C PASS 0/1 751 NON_SYNONYMOUS_CODING MODERATE None 0.50240 0.50240 0.44783 0.07 0.22 None None None None None None ATP7B|0.044059753|64.5%
View gpp10314_20120828021333_nucseek 13 rs732774
dbSNP Clinvar
52523808 2485.01 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.53095 0.53100 0.42835 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%

BAD

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 gpp10314_20120828021333_nucseek 11 rs2286615
dbSNP Clinvar
64039175 2996.01 G A PASS 0/1 290 SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.11423 None None None None None None BAD|0.361376571|23.36%,GPR137|0.100322562|51.1%

BCAT2

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 gpp10314_20120828021333_nucseek 19 rs11548193
dbSNP Clinvar
49303070 893.01 G C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.07089 0.07089 0.14562 0.19 0.06 None None None None None None BCAT2|0.021827226|73.26%