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
RS186264035 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS186264635 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS186266220 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1862663739 HPS5 Health Risk Pathogenic —
RS186269864 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS186272815 HTRA2 Health Risk Conflicting classifications of pathogenicity —
RS186273940 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS186276057 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1
RS1862810311 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1862823765 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS1862873659 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1862888748 CDH23 Health Risk Likely pathogenic —
RS186291107 COQ6 Health Risk Likely pathogenic —
RS186299244 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS186299744 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS186300062 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS186301471 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS186303123 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS1863076253 HPS5 Health Risk Pathogenic —
RS186307892 OTUD6B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies, seizures
RS186310325 OTOG Health Risk Conflicting classifications of pathogenicity —
RS1863263928 PNPLA8 Health Risk Pathogenic —
RS1863267269 PNPLA8 Health Risk Pathogenic —
RS186326868 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1863269109 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS186326951 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS186328815 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS186330724 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS1863313985 ALKBH8 Health Risk Likely pathogenic —
RS186332019 SNIP1 Health Risk Conflicting classifications of pathogenicity —
RS186332162 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS186333183 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS1863335460 LRP6 Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS1863365049 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS186337909 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS186340144 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS1863410159 LRP6 Health Risk Pathogenic —
RS186341159 SCN3B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 7, Cardiovascular phenotype
RS186341559 MCIDAS Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Ciliary dyskinesia
RS186346145 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS186348476 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS186349183 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1863518855 GRIN2B Health Risk Pathogenic —
RS1863527228 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS186352813 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1863530133 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1863532141 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS186358036 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS186365367 CASR Health Risk Conflicting classifications of pathogenicity Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia 1
RS186366365 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS186370374 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS1863723947 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS186384831 ASZ1 Health Risk Conflicting classifications of pathogenicity Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1863859239 MTMR2 Health Risk Likely pathogenic —
RS1863862591 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1863944217 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS186394654 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS186404793 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS186405108 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS186415745 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS186422070 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1864224611 CCND2 Health Risk Pathogenic —
RS1864225645 CCND2 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
RS186426892 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS186429469 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1864348159 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS186435141 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS186436335 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1864390545 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS186440319 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS186443262 ADAM9 Health Risk Conflicting classifications of pathogenicity —
RS1864433756 CDH23 Health Risk Likely pathogenic —
RS186443546 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1864436629 MTMR2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS1864438088 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS186443822 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS186448384 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS186448979 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS1864505636 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1864570703 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS186459476 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS186460995 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1864648097 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1864695566 CDH23 Health Risk Pathogenic —
RS1864697430 CDH23 Health Risk Likely pathogenic CDH23-related disorder, CDH23-related disorder
RS186471030 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS186471906 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1864734117 CABP4 Health Risk Pathogenic —
RS186476170 NDUFS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NDUFS2-related disorder
RS186476316 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Phosphate transport defect
RS1864796755 CABP4 Health Risk Pathogenic —
RS186480094 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS186482480 ERCC6 Health Risk Conflicting classifications of pathogenicity DE SANCTIS-CACCHIONE SYNDROME, ERCC6-related disorder
RS186484839 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1864858416 CABP4 Health Risk Likely pathogenic —
RS186486235 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1864896196 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1864914192 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1864916526 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS186492861 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
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