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
RS1231343685 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1231349140 SI Health Risk Pathogenic —
RS1231357043 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1231370273 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1231406078 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1231455463 PRKN Health Risk Pathogenic/Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1231469574 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS1231490307 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1231492796 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1231501584 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1231505438 EYS Health Risk Pathogenic —
RS1231515435 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS1231521376 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1231522341 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1231529155 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1231537024 IARS1 Health Risk Pathogenic —
RS1231557654 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1231568634 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1231568960 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1231593535 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1231596455 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1231598990 BLM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS12316150 OLR1 Health Risk risk factor Myocardial infarction, susceptibility to
RS1231646114 LOXL3 Health Risk Conflicting classifications of pathogenicity LOXL3-related Stickler syndrome, autosomal recessive
RS1231660958 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1231668679 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Usher syndrome type 3A
RS1231670313 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1231691192 MYO15A Health Risk Pathogenic/Likely pathogenic MYO15A-related disorder, Autosomal recessive nonsyndromic hearing loss 3
RS1231702573 SLC19A2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Inborn genetic diseases
RS1231716161 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1231721810 TET2 Health Risk Pathogenic —
RS1231723888 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1231727428 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1231728811 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1231769201 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1231791432 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1231801192 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1231802914 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1231805222 ZMIZ1 Health Risk Likely pathogenic Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
RS1231823028 WNT5A Health Risk Conflicting classifications of pathogenicity —
RS1231842600 GNB1 Health Risk Conflicting classifications of pathogenicity —
RS1231856737 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1231861984 DDB1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1231877314 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1231893162 RAB3GAP1 Health Risk Likely pathogenic —
RS1231899667 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1231906656 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1231912617 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1231928102 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1231942062 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1231959976 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1231960929 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1231977477 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1231988113 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Connective tissue disorder
RS1231991589 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS1231997862 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1232001857 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1232054387 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1232069163 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1232096291 HAAO Health Risk Likely pathogenic Vertebral, cardiac
RS1232103009 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1232129873 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1232171121 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1232180956 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1232184969 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1232214003 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1232223149 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1232251739 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS1232259438 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1232266542 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1232287616 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1232289653 PDSS1 Health Risk Likely pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1232301082 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1232305395 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1232312472 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1232331611 PRUNE1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS1232334931 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1232362461 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1232369409 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1232391570 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1232415717 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1232427997 CC2D1A Health Risk Pathogenic —
RS1232431574 CA5A Health Risk Likely pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS1232449804 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, PEX1-related disorder
RS1232454175 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1232476760 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS1232489201 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1232497911 TGM1 Health Risk Pathogenic —
RS1232510324 SLC26A3 Health Risk Pathogenic —
RS1232518763 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1232519357 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1232542382 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1232598459 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1232614751 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1232631800 NBAS Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1232634716 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS1232637160 RP1 Health Risk Pathogenic —
RS1232649308 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1232688220 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1232690058 COQ4 Health Risk Pathogenic Spastic ataxia 10, autosomal recessive
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