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
RS757065258 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757065708 RBL2 Health Risk Pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS757065777 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757065909 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757066417 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS757066608 MYO15A Health Risk Pathogenic MYO15A-related disorder, MYO15A-related disorder
RS757067036 MOCS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757067908 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS757068626 ALG2 Health Risk Likely pathogenic ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
RS757068809 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS757068910 TWNK Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS757070178 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS757070287 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS757071771 MYO18B Health Risk Pathogenic —
RS757072374 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS757072948 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS757073062 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS757074803 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS757075255 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS757075712 TFAM Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS757076408 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757077698 LINGO1 Health Risk Pathogenic Intellectual disability, autosomal recessive 64
RS757078301 CRIPT Health Risk Likely pathogenic Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
RS757080586 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS757080712 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757080959 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS757080996 TG Health Risk Likely pathogenic —
RS757081898 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS757082154 TTN Health Risk Pathogenic/Likely pathogenic Waddling gait, Limb-girdle muscular dystrophy
RS757082868 TCAP Health Risk Likely pathogenic Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2G
RS757083287 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS757083529 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS757086321 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757086356 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757087137 LRP8 Health Risk Conflicting classifications of pathogenicity —
RS757087471 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS757087677 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS757087726 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS757088000 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS757088457 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS757088867 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757089977 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757090161 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS757091387 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS757091694 WDR62 Health Risk Likely pathogenic —
RS757092241 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, SLC34A3-related disorder
RS757092766 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS757094189 SOS1 Health Risk Likely pathogenic RASopathy, Noonan syndrome 4
RS757094384 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS757095519 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS757095964 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS757098056 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS757098196 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS757099637 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS757099749 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757101121 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS757102252 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS757102395 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS757103085 PYROXD1 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS757104503 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS757104773 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS757105703 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS757106031 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS757106110 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS757106743 NCF4 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS757106859 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS757107530 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757108070 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS757108755 CEP152 Health Risk Pathogenic —
RS757109346 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS757109353 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS757109566 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS757109632 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS757110 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS757110150 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757110501 TMPRSS3 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS757110526 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS757110564 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS75711075 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS757110783 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS757111052 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS757111744 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS757111793 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS757111995 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS757112036 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS757112281 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS757113497 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757113799 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS757113987 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS757114327 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS757114521 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS757115090 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS757115396 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS757116652 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS757116654 IRF8 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS757118245 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS757118909 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757119133 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757119713 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS757120802 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
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