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
RS748695956 SYNE1 Health Risk Likely pathogenic —
RS748696533 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS74869729 TARBP1 Health Risk Conflicting classifications of pathogenicity —
RS748698490 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS748698776 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748699921 KAT8 Health Risk Pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS748700116 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS748700245 SETX Health Risk Likely pathogenic —
RS748700385 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS748702655 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS748702892 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS748704263 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS748704459 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS748705687 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS748706373 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS748706582 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS748706627 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS748707745 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS748708268 CYP1B1 Health Risk Conflicting classifications of pathogenicity Glaucoma 3A, Irido-corneo-trabecular dysgenesis
RS748709116 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alstrom syndrome
RS748709396 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS748710466 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS748710535 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS748711395 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS748711517 FLVCR2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS748712495 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS748712609 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS748713183 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS748714111 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
RS748714307 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS748714439 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 28
RS748715725 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS748716950 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS748716996 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS748717377 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS748717639 TBX19 Health Risk Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, See cases
RS748717860 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS748718937 STRC Health Risk Conflicting classifications of pathogenicity STRC-related disorder, STRC-related disorder
RS748718975 DPT Health Risk Pathogenic Progressive sensorineural hearing impairment, Progressive sensorineural hearing impairment
RS748719643 ATP6V0A4 Health Risk Likely pathogenic ATP6V0A4-related disorder, ATP6V0A4-related disorder
RS748719662 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS748720012 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748721463 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS748722289 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS748723735 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS748724067 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748724870 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Macular dystrophy with or without extraocular features
RS748725549 XKR7 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS748725556 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS748726158 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS748727021 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS748727595 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS748727674 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS748728165 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS748728894 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748729107 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS748730134 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS748730384 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS748731866 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, COCH-related disorder
RS748732150 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS748732850 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS748732950 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1-related disorder
RS748733167 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS748733661 KDM1A Health Risk Conflicting classifications of pathogenicity —
RS748733750 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS748735420 OTUD6B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS748737164 GATA4 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 2, Atrioventricular septal defect 4
RS748739254 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS748739874 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS748740454 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS748740551 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS748743312 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS748744542 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS748744950 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS748745776 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748746281 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS748746313 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS748746951 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS748747434 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS748747814 TAF1 Health Risk Uncertain significance; association Intellectual disability, X-linked
RS74874838 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS748749077 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748749433 USH1C Health Risk Conflicting classifications of pathogenicity —
RS748749585 INS Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young type 10
RS748750637 PDE6B Health Risk Pathogenic —
RS748752465 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS748753862 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS748754134 NDUFS8 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS748754551 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS748755041 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748755187 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, Waardenburg syndrome type 4C
RS748756180 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS748756524 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS748757085 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748757906 F13B Health Risk Pathogenic Factor XIII, b subunit
RS748758201 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa
RS748758448 LSS Health Risk Conflicting classifications of pathogenicity Alopecia-intellectual disability syndrome 4, LSS-related disorder
RS748759187 TBC1D24 Health Risk Likely pathogenic Familial infantile myoclonic epilepsy, Developmental and epileptic encephalopathy
RS748759292 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS7487595 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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