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
RS2104394867 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS2104394882 REEP1 Health Risk Pathogenic —
RS2104394897 REEP1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2104395088 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2104397838 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104398078 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104398285 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104399472 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104399905 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104399944 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104400347 SFTPB Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2104400733 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104400756 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104400787 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2104400928 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2104401359 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104401401 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104401876 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104402437 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2104404366 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104405276 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2104405386 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104405789 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104405937 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104406331 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104406360 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104406867 MERTK Health Risk Likely pathogenic —
RS2104406872 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104406873 MERTK Health Risk Likely pathogenic —
RS2104406996 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104407571 MERTK Health Risk Pathogenic —
RS2104407685 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104407996 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104409719 MSH2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104410344 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2104411620 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS2104412272 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2104413016 MERTK Health Risk Likely pathogenic —
RS2104414335 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2104414509 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS2104415820 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104419943 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104420229 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2104421764 MERTK Health Risk Pathogenic —
RS2104421991 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104422674 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104423405 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2104423657 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS2104423659 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS2104424446 MERTK Health Risk Pathogenic —
RS2104424501 MSH6 Health Risk Pathogenic —
RS2104424562 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104429347 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104429532 EIF2AK3 Health Risk Pathogenic —
RS2104430094 MSH6 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, Lynch syndrome 5
RS2104430494 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104431813 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104431856 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 5
RS2104432135 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2104433206 IL1RN Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2104434538 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104435254 MSH2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104435467 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104435779 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104435965 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104436070 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104436120 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104437384 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104437393 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2104437748 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104438511 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104439295 MSH2 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS2104439312 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104439370 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104439954 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104440046 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104440233 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104440647 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104440978 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104440982 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104441352 LOXL3 Health Risk Pathogenic Myopia 28, autosomal recessive
RS2104441416 MSH2 Health Risk Pathogenic/Likely pathogenic Muir-Torré syndrome, Hereditary cancer-predisposing syndrome
RS2104441586 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104443138 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104443257 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104444013 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104445982 EIF2AK3 Health Risk Pathogenic —
RS2104452781 EFEMP1 Health Risk Pathogenic Glaucoma of childhood, Glaucoma 1
RS2104457522 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2104458978 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104459015 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104459054 MSH2 Health Risk Pathogenic —
RS2104459356 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104459645 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104460600 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104462361 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104472117 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104472237 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104476971 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104478767 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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