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
RS71579841 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS71581025 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 3
RS71581941 SLCO1B1 Health Risk Pathogenic Rotor syndrome, SLCO1B1-related disorder
RS71581991 SLCO1B1 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS71582882 VWF Health Risk Conflicting classifications of pathogenicity —
RS71599965 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Amelogenesis imperfecta
RS71639057 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome
RS71640247 SLC10A2 Health Risk Conflicting classifications of pathogenicity Bile acid malabsorption, primary
RS71640277 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Short stature due to growth hormone qualitative anomaly
RS71640285 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS7164127 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS71647804 FIGLA Health Risk Pathogenic Premature ovarian failure 6, Premature ovarian failure 6
RS71647808 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS71647813 LFNG Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 3, autosomal recessive
RS71653621 PARK7 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS71653633 SLC6A3 Health Risk Conflicting classifications of pathogenicity Classic dopamine transporter deficiency syndrome, Tobacco addiction
RS7169142 KNL1 Health Risk Conflicting classifications of pathogenicity —
RS7170898 RPAP1 Health Risk Conflicting classifications of pathogenicity —
RS71785313 APOL1 Health Risk Conflicting classifications of pathogenicity; risk factor Focal segmental glomerulosclerosis 4, susceptibility to
RS71799110 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS7190978 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS7192781 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS71929101 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS7196804 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS7199464 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS7213707 SPNS2 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS7214082 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS72225459 GRM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13
RS7227375 NPC1 Health Risk Likely pathogenic —
RS7229488 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS7238500 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS724159823 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS724159826 LRP5 Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 4 with or without kidney cysts
RS724159828 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS724159829 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS724159830 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS724159945 ETV6 Health Risk Pathogenic Hematologic neoplasm, Thrombocytopenia
RS724159946 ETV6 Health Risk Pathogenic/Likely pathogenic Hematologic neoplasm, Thrombocytopenia
RS724159947 ETV6 Health Risk Pathogenic/Likely pathogenic Hematologic neoplasm, Thrombocytopenia
RS724159948 DYRK1A Health Risk Pathogenic 6 conditions, DYRK1A-related intellectual disability syndrome
RS724159949 DYRK1A Health Risk Pathogenic Absent or delayed speech development, Deeply set eye
RS724159950 DYRK1A Health Risk Pathogenic Intellectual disability, Microcephaly
RS724159951 DYRK1A Health Risk Likely pathogenic 6 conditions, 6 conditions
RS724159952 DYRK1A Health Risk Pathogenic 6 conditions, 6 conditions
RS724159953 DYRK1A Health Risk Pathogenic 6 conditions, DYRK1A-related intellectual disability syndrome
RS724159954 DYRK1A Health Risk Pathogenic 6 conditions, 6 conditions
RS724159956 DYRK1A Health Risk Pathogenic 6 conditions, Intellectual disability
RS724159957 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS724159958 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease
RS724159959 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease axonal type 2S
RS724159960 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Inborn genetic diseases
RS724159961 MFAP5 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 9
RS724159962 FAR1 Health Risk Pathogenic Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
RS724159963 FAR1 Health Risk Pathogenic Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
RS724159964 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS724159965 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS724159969 AIMP1 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 3, AIMP1-related disorder
RS724159970 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS724159971 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS724159973 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS724159974 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS724159975 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS724159976 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS724159978 RNF135 Health Risk Pathogenic Macrocephaly, macrosomia
RS724159979 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS724159980 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS724159982 SCN1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS724159983 OPN1MW Health Risk Pathogenic Deuteranomaly, Deuteranomaly
RS724159984 CDH3 Health Risk Pathogenic Hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS724159985 CDH3 Health Risk Pathogenic EEM syndrome, Macular dystrophy
RS724159988 P3H2 Health Risk Pathogenic/Likely pathogenic Myopia, high
RS724159990 ABAT Health Risk Pathogenic/Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases
RS724159991 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS724159992 ABAT Health Risk Pathogenic/Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS724159993 PIEZO2 Health Risk Pathogenic Gordon syndrome, Gordon syndrome
RS724159994 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease
RS724159995 PLK4 Health Risk Pathogenic Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS724159996 PLK4 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS724159997 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS724159998 LEP Health Risk Pathogenic Leptin dysfunction, Leptin dysfunction
RS724159999 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS724160000 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS724160001 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS724160002 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS724160003 BPNT2 Health Risk Pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS724160004 TGDS Health Risk Pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS724160005 TGDS Health Risk Pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS724160006 P3H2 Health Risk Pathogenic Myopia, high
RS724160008 ATP1A1 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160009 ATP2B3 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160010 ATP1A1 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160011 ATP2B3 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160012 ATP2B3 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160013 PRKACA Health Risk Pathogenic Pigmented nodular adrenocortical disease, primary
RS724160014 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160015 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160016 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160018 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160020 AIFM1 Health Risk Pathogenic/Likely pathogenic Deafness, X-linked 5
RS724160021 AIFM1 Health Risk Pathogenic/Likely pathogenic Deafness, X-linked 5
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