SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS775718887 NDUFS7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775720394 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS775720634 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Enhanced S-cone syndrome
RS775722631 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS775725299 CNTN4 Health Risk Conflicting classifications of pathogenicity —
RS775726168 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS775726256 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS775727204 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS775727621 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS775728208 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS775728252 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS775728847 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS775728920 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency 1
RS775729058 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS775730054 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS775730406 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS775730577 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775731489 RP1 Health Risk Pathogenic/Likely pathogenic —
RS775732218 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Shashi-Pena syndrome
RS775732598 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS775733700 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS775733967 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS775734065 VPS13A Health Risk Pathogenic —
RS775734577 CD36 Health Risk Likely pathogenic CD36-related disorder, CD36-related disorder
RS775734881 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775735278 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS775735922 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS775736341 SPART Health Risk Pathogenic Troyer syndrome, Inborn genetic diseases
RS775736911 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS775739005 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775739391 IFNAR2 Health Risk Pathogenic Immunodeficiency 45, Immunodeficiency 45
RS775739498 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS775740112 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS775740308 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS775742250 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS775742866 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS775743190 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Autism spectrum disorder
RS775743818 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775744847 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS775745422 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, RSPH9-related disorder
RS775746067 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS775747384 HPD Health Risk Pathogenic/Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS775748269 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Aortic valve disease 2
RS775748399 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS775748613 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS775749558 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS775749562 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS775749608 CYP4V2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS775750642 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS775750934 PPM1D Health Risk Conflicting classifications of pathogenicity PPM1D-related disorder, PPM1D-related disorder
RS775751428 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS775751453 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS775751831 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS775752088 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS775752734 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS775752911 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS775753303 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS775754117 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS775754967 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, Stickler syndrome
RS775754972 COL4A1 Health Risk Likely pathogenic —
RS775755027 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS775755423 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS775755739 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS775756069 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Cardiomyopathy
RS775756583 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775757073 DBR1 Health Risk Conflicting classifications of pathogenicity Encephalitis, acute
RS775757574 CHL1 Health Risk Conflicting classifications of pathogenicity —
RS775757700 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS775758509 COL20A1 Health Risk Conflicting classifications of pathogenicity —
RS775759098 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS775759198 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS775759544 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS775759879 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS775759946 SH2D1A Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS775760293 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775761047 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS775762045 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS775762093 MYORG Health Risk Pathogenic/Likely pathogenic Basal ganglia calcification, idiopathic
RS775762131 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS775763888 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS775763949 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS775764426 ATP6V0A4 Health Risk Likely pathogenic —
RS775764570 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS775765261 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS775765831 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS775766910 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS775767182 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS775767809 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS775768536 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS775768793 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS775768862 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS775769095 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS775769424 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS775769503 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS775769747 ACBD5 Health Risk Likely pathogenic —
RS775769857 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS775770292 IMPG1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 4, Benign concentric annular macular dystrophy
RS775771081 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS775771199 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS775771700 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
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