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
RS2138057963 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138066721 FREM2 Health Risk Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS2138070304 FREM2 Health Risk Pathogenic —
RS2138082472 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138082983 ARID2 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138083048 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138083574 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138084130 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138085855 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2138086329 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138086844 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2138087127 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138087163 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087235 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087348 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087581 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138087597 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087628 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087664 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138087738 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138087877 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138091518 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138091538 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138091656 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138091710 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138091767 RB1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Retinoblastoma
RS2138093555 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138093662 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138093700 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138093727 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138093778 OTOGL Health Risk Pathogenic —
RS2138093789 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138093817 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138093868 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2138093974 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2138094606 TPI1 Health Risk Likely pathogenic Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS2138107532 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138107604 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112027 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112047 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138112061 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138112354 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112357 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112461 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112509 RB1 Health Risk Pathogenic Hereditary retinoblastoma, Retinoblastoma
RS2138112755 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112865 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138112893 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138116265 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138116341 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138116702 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138116708 RB1 Health Risk Pathogenic Retinoblastoma, Sarcoma
RS2138120917 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138120959 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138121023 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138121175 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138121441 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138121452 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138123098 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138123114 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138126544 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138127522 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138130716 ARID2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2138130820 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138130852 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS2138131106 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138131143 RB1 Health Risk Pathogenic Squamous cell carcinoma, Squamous cell carcinoma
RS2138131253 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138131298 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138131328 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138131373 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138132429 ARID2 Health Risk Pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS2138132620 ARID2 Health Risk Likely pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS2138136154 RB1 Health Risk Pathogenic Retinoblastoma, Malignant tumor of urinary bladder
RS2138136261 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS2138136325 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138136386 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138136448 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138136497 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138136807 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138136810 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138136840 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138140730 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138140795 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138140900 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138140923 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138140935 RB1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138142183 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138142263 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138142421 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138143170 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138143230 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS2138144870 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138144909 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138144919 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138144988 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138145061 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145156 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145163 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145303 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
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