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
RS41295268 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41295270 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41295278 MSH6 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS41295282 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS41295286 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41295288 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS41295290 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS41295292 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41295294 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41295296 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS41295338 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS41295381 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Ovarian serous cystadenocarcinoma
RS41295906 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS41295921 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS41296645 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Inborn genetic diseases
RS41296696 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, FLVCR1-related disorder
RS41297065 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, SLC46A1-related disorder
RS41297067 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS41297069 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, SLC46A1-related disorder
RS41297071 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS41297444 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS41297883 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS41298129 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS41298131 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS41298133 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Rare genetic deafness
RS41298151 FREM1 Health Risk Conflicting classifications of pathogenicity Congenital diaphragmatic hernia, Oculotrichoanal syndrome
RS41298432 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS41298438 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS41298440 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS41298442 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS41298474 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS41298745 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS41298753 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS41298759 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS41299092 ADGRG4 Health Risk Conflicting classifications of pathogenicity —
RS41299490 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS41299496 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS41299595 MDM4 Health Risk Conflicting classifications of pathogenicity —
RS41299613 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Chronic kidney disease
RS41300244 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS41300592 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS41301343 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS41301439 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Nonpapillary renal cell carcinoma
RS41301481 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS41302133 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS41302239 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS41302345 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS41302357 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS41302559 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS41302834 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS41302883 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS41302885 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal acantholytic epidermolysis bullosa
RS41303149 FRMPD4 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS41303255 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS41303287 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS41303352 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS41303356 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS41303495 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS41303501 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis, type 1
RS41303701 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS41303899 TUBB1 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Macrothrombocytopenia
RS41303970 GCLM Health Risk risk factor Myocardial infarction, susceptibility to
RS41304245 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS41304587 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Abnormal bleeding
RS41304705 MXRA5 Health Risk Conflicting classifications of pathogenicity —
RS41304772 INSR Health Risk Conflicting classifications of pathogenicity —
RS41305647 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS41305898 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS41305900 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS41305933 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS41306259 RIPPLY1 Health Risk Conflicting classifications of pathogenicity RIPPLY1-related disorder, RIPPLY1-related disorder
RS41306397 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS41306567 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS41306784 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, ABHD12-related disorder
RS41307118 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS41307292 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS41307295 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS41307461 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS41307788 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, Immunodeficiency due to MASP-2 deficiency
RS41308297 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS41308303 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS41308359 MXRA5 Health Risk Conflicting classifications of pathogenicity —
RS41308425 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS41308840 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS41309132 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS41309762 F12 Health Risk Likely pathogenic Factor XII deficiency disease, Factor XII deficiency disease
RS41309764 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Adams-Oliver syndrome 5
RS41309766 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Adams-Oliver syndrome 5
RS41310410 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS41310709 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS41310765 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiac arrhythmia
RS41310769 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Progressive familial heart block
RS41311009 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS41311087 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Cardiac arrhythmia
RS41311117 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome
RS41311121 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS41311123 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS41311127 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Long QT syndrome
RS41311143 EWSR1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS41311335 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2
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