SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS925067209 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS925107016 CYP4V2 Health Risk Pathogenic —
RS925128416 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS925142025 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS925157796 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS925168425 EYS Health Risk Pathogenic —
RS925177812 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS925186023 TGFBR2 Health Risk Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS925231098 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS925297712 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Stickler syndrome type 1
RS925343986 TBCK Health Risk Likely pathogenic Inborn genetic diseases, Hypotonia
RS925348950 AIP Health Risk Pathogenic —
RS925384452 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS925399787 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS925412397 PRDX3 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 32
RS925428128 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS925450718 SLC35D1 Health Risk Likely pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS925457555 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS925484505 SETD5 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS925493461 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS925502732 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS925528695 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS925532395 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS925553792 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS925595786 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS925661175 CCT5 Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS925675970 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS925688689 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS925708240 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS925811677 TWIST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Saethre-Chotzen syndrome
RS925816831 NOD2 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS925822435 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS925832623 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS925841838 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS925870726 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS925889440 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS925908885 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS925915337 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS925920723 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS925928897 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS925947627 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS925954967 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS925968707 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS925976819 KAT6A Health Risk Likely pathogenic —
RS925988904 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS925993447 MPC1L Health Risk Conflicting classifications of pathogenicity —
RS926025297 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS926027867 CAMK2A Health Risk Pathogenic Intellectual disability, autosomal dominant 53
RS926053251 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS926054421 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS926074 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS926127838 SRCAP Health Risk Likely pathogenic —
RS926177767 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS926187308 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS926233307 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS926233739 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS926297805 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS926318221 HOMER2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS926337524 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS926347298 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS926379811 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS926405916 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS926409425 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Orofaciodigital syndrome type 6
RS926413112 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS926426117 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS926460699 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS9264942 HLA-C Health Risk risk factor HIV-1 VIREMIA, SUSCEPTIBILITY TO
RS926564671 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS926585713 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS926590189 SLIT3 Health Risk Likely pathogenic Familial congenital diaphragmatic hernia, Familial congenital diaphragmatic hernia
RS926605064 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS926605269 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS926661627 PYGM Health Risk Likely pathogenic —
RS926668379 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS926691029 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS926741242 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS926747893 DPP6 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS926748713 TRMU Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS926750246 ODAD1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS926772662 POGZ Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Inborn genetic diseases
RS926775037 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS926784722 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS926806639 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS926855674 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS926862737 ADGRG6 Health Risk Likely pathogenic Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
RS926871139 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS926930860 EYS Health Risk Likely pathogenic —
RS926930916 USH2A Health Risk Conflicting classifications of pathogenicity —
RS926942003 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS926950737 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS926966364 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS927047621 NEXMIF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS927067298 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS927103678 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS927125994 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS927135298 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS927155737 HPS3 Health Risk Conflicting classifications of pathogenicity —
RS927157864 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS927158679 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS927186701 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
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