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
RS2523902375 ABCA4 Health Risk Pathogenic —
RS2523904059 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523906210 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523909095 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523909984 F8 Health Risk Pathogenic —
RS2523911797 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523913093 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523913122 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523913908 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523914698 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523915561 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523915648 MAPRE2 Health Risk Conflicting classifications of pathogenicity Skin creases, congenital symmetric circumferential
RS2523915654 MAPRE2 Health Risk Likely pathogenic Skin creases, congenital symmetric circumferential
RS2523915699 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523917477 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523920375 CAMTA1 Health Risk Pathogenic CAMTA1-related disorder, CAMTA1-related disorder
RS2523921174 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523921332 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523923494 VPS13D Health Risk Pathogenic —
RS2523923671 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523928931 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2523932916 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523933185 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523933192 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523941865 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2523942195 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523942271 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523942440 F8 Health Risk Pathogenic —
RS2523943921 VPS13D Health Risk Pathogenic —
RS2523944910 KCNQ4 Health Risk Likely pathogenic —
RS2523945705 F8 Health Risk Likely pathogenic —
RS2523947665 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS2523948090 TACSTD2 Health Risk Likely pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS2523950236 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523950289 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523950340 F8 Health Risk Likely pathogenic —
RS2523951112 F8 Health Risk Conflicting classifications of pathogenicity —
RS2523951122 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523951206 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523951343 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523951441 PRDM16 Health Risk Likely pathogenic Left ventricular noncompaction 8, PRDM16-related congenital heart disease
RS2523952171 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS2523954069 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523954426 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523954592 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523957520 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523959929 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2523962293 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2523964937 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523965164 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523965353 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS2523965705 ABCA4 Health Risk Pathogenic —
RS2523965817 ABCA4 Health Risk Pathogenic —
RS2523965931 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2523966504 ABCA4 Health Risk Pathogenic —
RS2523969707 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523969766 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523969776 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523969889 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523972211 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2523972711 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523975768 VPS13D Health Risk Pathogenic —
RS2523977029 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2523977108 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS2523977122 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS2523978952 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2523979805 ABCA4 Health Risk Likely pathogenic —
RS2523979837 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2523979862 ABCA4 Health Risk Pathogenic —
RS2523980194 ABCA4 Health Risk Pathogenic —
RS2523980415 ABCA4 Health Risk Pathogenic —
RS2523980607 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2523983926 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2523989528 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2523990411 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2523990767 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523991314 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523992082 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2523996953 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2523997432 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523998901 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2523999188 ABCA4 Health Risk Likely pathogenic Stargardt disease 3, Stargardt disease 3
RS2523999461 ABCA4 Health Risk Pathogenic —
RS2523999467 ABCA4 Health Risk Pathogenic —
RS2523999579 ABCA4 Health Risk Pathogenic —
RS2524001191 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524003925 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2524007787 ABCA4 Health Risk Pathogenic —
RS2524007817 MUTYH Health Risk Likely pathogenic —
RS2524008053 ABCA4 Health Risk Pathogenic —
RS2524008077 ABCA4 Health Risk Pathogenic —
RS2524008173 ABCA4 Health Risk Pathogenic —
RS2524008286 ABCA4 Health Risk Pathogenic —
RS2524008424 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524010030 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524011165 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524012540 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524013631 STIL Health Risk Pathogenic —
RS2524014792 ABCA4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS2524015442 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
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