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
RS2548297262 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS2548298268 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548298274 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548298312 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548298343 PRPH2 Health Risk Likely pathogenic Patterned dystrophy of the retinal pigment epithelium, Patterned dystrophy of the retinal pigment epithelium
RS2548298363 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548298397 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548299083 TRAP1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS2548300655 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300670 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300686 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300727 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300729 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300768 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300782 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300805 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2548300822 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548300838 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548303507 TPK1 Health Risk Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS2548303949 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS2548305568 RPS17 Health Risk Likely pathogenic Diamond-Blackfan anemia 4, Diamond-Blackfan anemia 4
RS2548306210 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548306430 RPS17 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2548306778 RPS17 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 4
RS2548309582 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309605 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309643 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309652 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309660 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309705 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309708 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309755 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309785 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309835 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309917 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548309957 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2548311523 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548311703 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548311864 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548311907 NTHL1 Health Risk Pathogenic —
RS2548311973 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548311981 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548312011 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548312102 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548314985 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2548314993 NTHL1 Health Risk Pathogenic —
RS2548315004 NTHL1 Health Risk Pathogenic —
RS2548315043 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548315071 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548315153 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548315177 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548315183 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548315200 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2548315238 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2548315247 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2548315270 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548316205 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548316221 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548316235 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548316266 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548316271 NTHL1 Health Risk Likely pathogenic —
RS2548316296 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548316318 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2548316384 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548316432 NTHL1 Health Risk Pathogenic —
RS2548316459 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2548316461 NTHL1 Health Risk Pathogenic —
RS2548319061 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548319118 NTHL1 Health Risk Pathogenic —
RS2548319297 NTHL1 Health Risk Pathogenic —
RS2548319413 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548319666 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548319715 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548320418 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2548320449 NTHL1 Health Risk Pathogenic —
RS2548320617 NTHL1 Health Risk Pathogenic —
RS2548320697 NTHL1 Health Risk Pathogenic —
RS2548320872 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548321081 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548321272 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548321541 NTHL1 Health Risk Pathogenic —
RS2548321575 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2548325639 ADAMTS17 Health Risk Pathogenic —
RS2548329655 CYP11A1 Health Risk Pathogenic —
RS2548330553 CYP11A1 Health Risk Pathogenic —
RS2548330915 CYP11A1 Health Risk Pathogenic —
RS2548330928 CYP11A1 Health Risk Pathogenic —
RS2548330961 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS2548331284 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548331710 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548331721 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548331747 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548331798 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548331844 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2548331894 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548331971 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548332224 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2548332320 NTHL1 Health Risk Pathogenic —
RS2548332680 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2548333540 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
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