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
RS2467325671 TMEM163 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2467329431 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2467332466 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467332716 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467333098 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467333753 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467333810 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467344481 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467345309 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467349956 SNRNP200 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2467352114 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467352953 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467354598 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467357949 BCL11A Health Risk Pathogenic —
RS2467360189 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2467370162 NRXN1 Health Risk Conflicting classifications of pathogenicity NRXN1-related disorder, NRXN1-related disorder
RS2467370218 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS2467370270 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 1
RS2467370400 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467374878 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis 1
RS2467374890 NPHP1 Health Risk Pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467395269 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467403268 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467403726 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis 1
RS2467405206 NPHP1 Health Risk Likely pathogenic Nephronophthisis 1, Nephronophthisis 1
RS2467405409 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467425985 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2467426348 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467426571 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467426584 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467434544 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467441966 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467442575 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467473532 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467473596 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467484485 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467484660 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467490891 LCT Health Risk Likely pathogenic —
RS2467491761 ANTXR1 Health Risk Likely pathogenic GAPO syndrome, GAPO syndrome
RS2467501358 LCT Health Risk Pathogenic —
RS2467507426 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467507433 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467508032 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467508347 PEX13 Health Risk Pathogenic PEX13-related disorder, Peroxisome biogenesis disorder
RS2467508404 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467508461 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467508700 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467520088 GLI2 Health Risk Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS2467524698 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2467527058 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467527251 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467527282 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2467529750 RANBP2 Health Risk Likely pathogenic Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS2467548016 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467555675 POLR1B Health Risk Likely pathogenic Treacher Collins syndrome 4, Treacher Collins syndrome 4
RS2467598236 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467599107 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS2467599617 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS2467608578 TBCK Health Risk Likely pathogenic TBCK-related disorder, TBCK-related disorder
RS2467621338 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467623019 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467633371 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467634622 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467634733 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467635159 TET3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467635315 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467640486 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467640491 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467640539 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467640652 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467641602 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467641656 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467644775 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467644943 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467645024 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467645025 MMADHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2467645031 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467645084 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467647793 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467648001 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2467651823 TET3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467653249 FANCL Health Risk Likely pathogenic Fanconi anemia, Squamous cell lung carcinoma
RS2467655463 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2467657005 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467657092 TET3 Health Risk Pathogenic —
RS2467657340 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS2467657643 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2467684945 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467686025 TET3 Health Risk Pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2467686698 GLI2 Health Risk Pathogenic GLI2-related disorder, GLI2-related disorder
RS2467699176 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS2467727114 GLI2 Health Risk Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467737048 EXOC6B Health Risk Pathogenic —
RS2467749474 GLI2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467766888 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467768078 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS2467768738 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467770120 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467775195 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS2467776444 GLI2 Health Risk Likely pathogenic GLI2-related disorder, GLI2-related disorder
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