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
RS750593383 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS750594210 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS750594279 LRP6 Health Risk Pathogenic —
RS750594314 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750594890 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS750595555 NUP62 Health Risk Conflicting classifications of pathogenicity —
RS750596095 RNF213 Health Risk risk factor Moyamoya disease 2, Moyamoya disease 2
RS750596755 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS750596783 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750597831 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750598605 ERCC6 Health Risk Pathogenic —
RS750599200 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS750599225 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS750599959 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS750600448 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS750600586 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS750602133 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS750603177 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS750603454 TFR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary hemochromatosis
RS750604350 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS750604586 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750606223 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS750607476 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750608792 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS750609110 CTSK Health Risk Conflicting classifications of pathogenicity —
RS750609245 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CNGB1-related disorder
RS750609612 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS750609759 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS750610043 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS750610201 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS750610248 BCL11B Health Risk Pathogenic Combined immunodeficiency, Immunodeficiency 49
RS750610377 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS750610720 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS750610895 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750611000 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS750611719 IL12RB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS750612085 LINGO1 Health Risk Pathogenic Intellectual disability, autosomal recessive 64
RS750614475 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease
RS750614500 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, ADSL-related disorder
RS750615873 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750616133 CEP135 Health Risk Pathogenic —
RS750616657 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS750617137 C9 Health Risk Pathogenic —
RS750617462 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750618265 EXOSC9 Health Risk Pathogenic —
RS750618617 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS750618688 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS750618829 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS750619189 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS750619309 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS750620293 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS750620302 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS750620615 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS750621192 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS750621215 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS750621529 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS750622215 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS750622312 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS750623875 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS750623911 ARL6IP1 Health Risk Pathogenic Hereditary spastic paraplegia 61, ARL6IP1-related disorder
RS750624029 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS750624044 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS750625862 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS750628677 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS750630131 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750631177 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750632206 CCM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation 2
RS750633804 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750633919 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS750636662 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Macular dystrophy
RS750636989 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS750637537 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS750637713 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS750638027 SHOX Health Risk Conflicting classifications of pathogenicity —
RS750638943 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS750639988 LCA5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS750640009 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750640150 BCORL1 Health Risk Pathogenic Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia
RS750640740 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS750640802 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS750641485 TUBGCP4 Health Risk Pathogenic —
RS750641928 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS750642580 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS750642581 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS750642821 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS750643216 CARD10 Health Risk risk factor Primary open angle glaucoma, Primary open angle glaucoma
RS750644251 TCTN3 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS750644305 TCF3 Health Risk Conflicting classifications of pathogenicity —
RS750645480 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS750646335 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750646887 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS750647348 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS750647872 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1B, Autosomal dominant nonsyndromic hearing loss 11
RS750648216 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS750649191 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750649426 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS750649530 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS750649974 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS750650349 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS750650768 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
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