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
RS142755965 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS142756262 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS142756549 CNTNAP1 Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS142756842 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS142756900 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS142756983 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, TNFSF11-related disorder
RS1427577461 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS142757938 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS142757984 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1427580402 TTN Health Risk Conflicting classifications of pathogenicity —
RS142758675 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer
RS1427595954 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142759730 INPP5E Health Risk Pathogenic/Likely pathogenic Rod-cone dystrophy, MORM syndrome
RS142759891 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS1427605081 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS142761474 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142761835 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS142762463 CFAP43 Health Risk Conflicting classifications of pathogenicity —
RS1427624649 KANSL1 Health Risk Pathogenic Inborn genetic diseases, Koolen-de Vries syndrome
RS142762689 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS142762839 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS142763060 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS142763740 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1427643616 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Inborn genetic diseases
RS142765230 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1427656678 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142766262 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1427663367 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS142766345 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS142766716 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1427667950 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS142766824 CEP63 Health Risk Conflicting classifications of pathogenicity —
RS142768096 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1427687544 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS142768885 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1427690050 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1427693895 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS1427698686 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS142769942 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS142770543 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, 14 conditions
RS142771862 RHO Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS142772020 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1427720732 WBP4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS142772503 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS142773831 RDX Health Risk Conflicting classifications of pathogenicity RDX-related disorder, RDX-related disorder
RS142773987 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS142774418 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS1427744978 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS142774907 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Tip-toe gait
RS1427750922 COL6A2 Health Risk Conflicting classifications of pathogenicity Myosclerosis, Bethlem myopathy 1A
RS142775128 GLI2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Holoprosencephaly 9
RS142775374 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS142775938 MEFV Health Risk Conflicting classifications of pathogenicity Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
RS1427770112 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1427770703 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS142777869 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
RS142779190 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS1427798436 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS142779872 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS142780305 PEX19 Health Risk Conflicting classifications of pathogenicity PEX19-related disorder, Peroxisome biogenesis disorder 12A (Zellweger)
RS1427806742 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS142781107 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS142781513 TRIM32 Health Risk Conflicting classifications of pathogenicity —
RS142781546 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Ichthyosis and erythrokeratoderma
RS142782021 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS1427839320 MYL3 Health Risk Likely pathogenic —
RS1427839472 TG Health Risk Pathogenic —
RS142784113 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS142784252 MCM3AP Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Inborn genetic diseases
RS142784426 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1427847949 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1427848377 MYO7A Health Risk Pathogenic —
RS1427858640 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS142786097 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142786231 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS142787001 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS142787842 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1427880966 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS142788731 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS142789080 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS142790440 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS142790611 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS142791153 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, TCN2-related disorder
RS1427913145 CYP21A2 Health Risk Likely pathogenic —
RS1427916078 SLC45A2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS142791675 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1427917546 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS142791877 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142793351 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142793711 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS142794316 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS142794414 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS142794758 NCDN Health Risk Conflicting classifications of pathogenicity —
RS142796007 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142796181 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS142796603 CSF2RA Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS142797325 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS142797573 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS142797604 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1427979807 EXOSC3 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
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