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
RS765448750 TLE6 Health Risk Pathogenic —
RS765448811 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765449173 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS765449212 GDF1 Health Risk Conflicting classifications of pathogenicity —
RS765450816 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS765451882 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS765454943 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS765455172 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS765455455 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS765455808 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS765457523 CPLANE1 Health Risk Conflicting classifications of pathogenicity CPLANE1-related disorder, Orofaciodigital syndrome type 6
RS765457704 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS765458125 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS765459582 GJA1 Health Risk Conflicting classifications of pathogenicity Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1
RS765459820 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS765460065 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS765461259 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS765461729 NSUN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765463082 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS765463274 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS765463636 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS765464461 FNIP1 Health Risk Likely pathogenic Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
RS765464485 PRDM5 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS765468034 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS765468063 LRP5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765468519 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS765468645 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Generalized hypotonia
RS765471424 AGK Health Risk Pathogenic Sengers syndrome, Cataract 38
RS765472301 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765472726 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS765473119 LCA5 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS765473830 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS765474118 GP1BA Health Risk Pathogenic Pseudo von Willebrand disease, Pseudo von Willebrand disease
RS765475926 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS765475941 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS765476443 KDM1A Health Risk Conflicting classifications of pathogenicity —
RS765476509 CALR Health Risk Pathogenic Thrombocythemia 1, Primary myelofibrosis
RS765476521 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS765476745 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS765477124 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS765477482 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS765478068 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765478662 FGF23 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis
RS765478968 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS765478990 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS765480069 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765480571 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS765483163 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Nephronophthisis
RS765483435 TUBA1A Health Risk Conflicting classifications of pathogenicity TUBA1A-related disorder, TUBA1A-related disorder
RS765483709 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765483979 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS765484171 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS765484849 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS765486614 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765487110 FAM161A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765487627 GLRX5 Health Risk Pathogenic Sideroblastic anemia 3, Sideroblastic anemia 3
RS765487816 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765489269 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS765489754 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS765490369 MLC1 Health Risk Pathogenic —
RS765492483 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation 1
RS765493144 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS765493484 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS765493709 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765494437 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS765496324 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765496350 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS76549675 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS765497074 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS765498367 AMMECR1 Health Risk Likely pathogenic Midface hypoplasia, hearing impairment
RS765498698 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS765499763 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS765499904 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS765501841 CUL3 Health Risk Conflicting classifications of pathogenicity —
RS765502145 SLC34A3 Health Risk Likely pathogenic —
RS765502530 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS765502638 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS765503214 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS765503809 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS765503816 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS765506021 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS765506121 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS765506701 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inborn genetic diseases
RS765507339 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765507796 C9 Health Risk Conflicting classifications of pathogenicity —
RS765508670 ALPK3 Health Risk Pathogenic —
RS765511273 MYH3 Health Risk Pathogenic/Likely pathogenic —
RS765511300 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765511963 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS765512351 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS765512476 TTN;TTN-AS1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS765512575 INS Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Dominant/Recessive
RS765513105 WDR35 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Cranioectodermal dysplasia 2
RS765514069 RUSC2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 61
RS765514910 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS765514964 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related disorder
RS765515764 DYNC2H1 Health Risk Likely pathogenic DYNC2H1-related disorder, DYNC2H1-related disorder
RS765517032 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765517862 EFEMP1 Health Risk Pathogenic 14 conditions, Cutis laxa
RS765518889 FECH Health Risk Likely pathogenic Protoporphyria, erythropoietic
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