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
RS104886244 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886245 COL4A5 Health Risk Pathogenic Alport syndrome 1, Alport syndrome 1
RS104886247 COL4A5 Health Risk Likely pathogenic Alport syndrome, X-linked Alport syndrome
RS104886251 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886252 COL4A5 Health Risk Pathogenic —
RS104886253 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886255 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886261 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886262 COL4A5 Health Risk Likely pathogenic —
RS104886264 COL4A5 Health Risk Pathogenic —
RS104886266 COL4A5 Health Risk Pathogenic —
RS104886267 COL4A5 Health Risk Likely pathogenic —
RS104886269 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886270 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS104886276 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS104886279 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886280 COL4A5 Health Risk Likely pathogenic —
RS104886282 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886285 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS104886286 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS104886287 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886288 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886292 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886293 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886294 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS104886298 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886299 COL4A5 Health Risk Pathogenic Alport syndrome, X-linked Alport syndrome
RS104886300 COL4A5 Health Risk Pathogenic/Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS104886302 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886303 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS104886305 COL4A5 Health Risk Pathogenic —
RS104886306 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886308 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Hematuria
RS104886310 COL4A5 Health Risk Likely pathogenic —
RS104886312 COL4A5 Health Risk Pathogenic Autosomal dominant Alport syndrome, Thyroid cancer
RS104886313 COL4A5 Health Risk Pathogenic —
RS104886314 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, See cases
RS104886319 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886332 COL4A5 Health Risk Pathogenic —
RS104886337 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS104886338 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS104886339 COL4A5 Health Risk Pathogenic —
RS104886340 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886341 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886344 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886347 COL4A5 Health Risk Likely pathogenic —
RS104886348 COL4A5 Health Risk Pathogenic —
RS104886349 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886351 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886356 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886363 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS104886368 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886371 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886372 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886374 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886375 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886377 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886378 COL4A5 Health Risk Pathogenic —
RS104886382 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS104886385 COL4A5 Health Risk Pathogenic —
RS104886387 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS104886388 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Hematuria
RS104886395 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886399 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases
RS104886402 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886407 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS104886413 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886414 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886424 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886427 COL4A5 Health Risk Pathogenic —
RS104886429 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Inborn genetic diseases
RS104886431 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886434 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886440 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS104886442 COL4A5 Health Risk Likely pathogenic —
RS104886443 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886446 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886448 COL4A5 Health Risk Likely pathogenic —
RS104886450 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886451 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886453 COL4A5 Health Risk Pathogenic —
RS104886456 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS104886457 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS104886458 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS104886459 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS104886460 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease type II
RS104886461 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis
RS1048865247 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1048869073 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS1048876742 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS1048886135 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1048918488 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1048935147 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS104893611 CFC1 Health Risk Pathogenic Heterotaxy, visceral
RS104893612 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Retinal dystrophy
RS104893613 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Monochromacy
RS104893614 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy
RS104893615 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Retinal dystrophy
RS104893616 CNGA3 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy
RS104893617 CNGA3 Health Risk Pathogenic Achromatopsia 2, Monochromacy
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