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
RS139401491 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1394015094 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS139401671 FZD4 Health Risk Pathogenic —
RS1394017906 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS139402062 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS1394021280 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1394021695 PCLO Health Risk Pathogenic —
RS139402633 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS139403702 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1394044603 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS139405076 RNF43 Health Risk Conflicting classifications of pathogenicity Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS139405380 ZMYM3 Health Risk Conflicting classifications of pathogenicity —
RS1394059438 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1394059699 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1394064043 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Glioma susceptibility 1
RS139406689 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS139407102 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS139407103 ADCY3 Health Risk Conflicting classifications of pathogenicity ADCY3-related disorder, ADCY3-related disorder
RS139407567 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS1394080480 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS139408872 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS139409005 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS139409128 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1394098762 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1394101107 ABCA4 Health Risk Likely pathogenic —
RS139410488 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS139411571 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139411595 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
RS1394116781 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139412383 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS139412411 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS139412425 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS139412622 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS139412672 KIAA1549 Health Risk Conflicting classifications of pathogenicity KIAA1549-related disorder, Inborn genetic diseases
RS1394131270 SZT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1394131775 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1394135402 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1394140383 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS1394141324 SPTA1 Health Risk Pathogenic Pyropoikilocytosis, hereditary
RS139414606 PMS1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS139415150 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS139415563 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS139415581 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS1394158081 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS139416233 DNAAF2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAAF2-related disorder
RS139416272 RGS3 Health Risk Conflicting classifications of pathogenicity —
RS139416487 TEX14 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS139416718 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS139417458 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder
RS139417576 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS139418141 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS139418651 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1394188143 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS139418842 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS139418917 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1394193524 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS139419737 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Retinal dystrophy
RS1394199064 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1394199299 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1394225411 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1394227134 C2 Health Risk Pathogenic —
RS1394231995 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS139423939 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1394246954 AFG2A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1394251620 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139425340 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS139425622 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS139425890 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS139426093 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental disorder, Developmental disorder
RS139426141 PADI3 Health Risk Conflicting classifications of pathogenicity Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1
RS1394266353 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, GCK-related disorder
RS139427451 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1394276163 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS139428059 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS139428175 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS139428176 KRT1 Health Risk Conflicting classifications of pathogenicity Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic ichthyosis
RS139428292 RBM8A Health Risk Conflicting classifications of pathogenicity; other Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder
RS139429793 EGFR Health Risk Conflicting classifications of pathogenicity Lung adenocarcinoma, EGFR-related lung cancer
RS139429887 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1394300572 LHCGR Health Risk Likely pathogenic —
RS1394301488 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS139430866 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Combined oxidative phosphorylation deficiency
RS139431568 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1394324745 LRPPRC Health Risk Pathogenic —
RS139432673 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1394331445 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS139433219 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139433990 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS139434026 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS139434755 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS139434937 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1394349467 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1394353328 ASPM Health Risk Pathogenic —
RS139435501 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS139435774 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1394361948 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS139436386 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS139436396 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS139436724 NBAS Health Risk Conflicting classifications of pathogenicity —
RS1394368004 VPS13A Health Risk Pathogenic —
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