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
RS570907044 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS570907779 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
RS570910902 SKIC3 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Trichohepatoenteric syndrome 1
RS570914185 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS570914443 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS570916267 SYNE1 Health Risk Likely pathogenic SYNE1-related disorder, SYNE1-related disorder
RS570923866 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570925076 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS570926723 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, B4GALT7-related disorder
RS570927625 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS570935105 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS570940951 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS570942190 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS570950728 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS570952151 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS570955542 PMP22 Health Risk Conflicting classifications of pathogenicity —
RS570955795 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, TRPM6-related disorder
RS570957320 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570958164 POC1B Health Risk Pathogenic —
RS570962385 IARS1 Health Risk Conflicting classifications of pathogenicity Growth retardation, intellectual developmental disorder
RS570963533 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS570973405 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS570983410 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS570984485 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETBP1-related disorder
RS570989155 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS570989221 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS570989564 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570994490 NDE1 Health Risk Conflicting classifications of pathogenicity NDE1-related disorder, NDE1-related disorder
RS571007078 ILDR1 Health Risk Pathogenic/Likely pathogenic Congenital sensorineural hearing impairment, Autosomal recessive nonsyndromic hearing loss 42
RS571009750 LAMA3 Health Risk Pathogenic —
RS571011689 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS571016917 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS571024836 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS571025757 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS571030699 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NBAS-related disorder
RS571035242 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS571036199 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS571038432 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS571045498 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS571047357 CAT Health Risk Conflicting classifications of pathogenicity Acatalasia, Intellectual disability
RS571051013 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS571051982 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS57105517 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS571063157 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS571064207 FKRP Health Risk Conflicting classifications of pathogenicity FKRP-related disorder, FKRP-related disorder
RS571067306 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571084306 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571092411 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hemolytic anemia
RS571093313 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS571098288 CDC14A Health Risk Conflicting classifications of pathogenicity —
RS571102620 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS571108955 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS571111328 ZNF407 Health Risk Pathogenic Short stature, impaired intellectual development
RS571115191 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS571119317 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS571123414 LIG1 Health Risk Conflicting classifications of pathogenicity —
RS571126286 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS571127452 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS571130499 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS571140165 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, ALDH18A1-related disorder
RS571142182 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS571145188 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS571146839 SYNPO Health Risk Conflicting classifications of pathogenicity —
RS571151302 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS571151621 HPS4 Health Risk Conflicting classifications of pathogenicity —
RS571152089 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS571154058 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS571170303 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS571176607 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, Gastric cancer
RS571177831 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS571178452 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS571178917 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS571184307 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS571184796 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS571189404 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS571206900 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACAN-related disorder
RS571207087 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS57120761 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS57121345 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1D, generalized
RS571222120 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS571228447 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS571231816 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS571233072 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571235425 PMS1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Lynch syndrome 1
RS571254395 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS571258186 DISP1 Health Risk Conflicting classifications of pathogenicity —
RS571264328 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571264557 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS57126929 KRT6A Health Risk Likely pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS571278160 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS571279786 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571280873 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS571282132 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS571287679 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS571288423 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS571292207 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS571292356 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS571301599 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS571303442 ZC3H14 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 56
RS571304936 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
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