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
RS1553348090 NBAS Health Risk Likely pathogenic —
RS1553348499 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1553348652 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348668 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553348689 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348705 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348722 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553348760 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1553348794 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1553348804 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1553348821 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348842 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553348882 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553348889 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348896 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553348898 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553348901 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553348904 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553348920 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1553348960 EFEMP1 Health Risk Likely pathogenic Blindness, Night blindness
RS1553350052 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553350075 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1553350100 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553350126 MSH2 Health Risk Pathogenic Muir-Torré syndrome, Lynch syndrome
RS1553350167 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553350250 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1553350466 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553350676 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553350680 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553350694 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553350714 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553350721 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553350758 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553350787 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553350789 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS1553350883 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1553350898 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553350946 MSH2 Health Risk Pathogenic Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS1553350966 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553350974 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553350980 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553351355 PREPL Health Risk Pathogenic —
RS1553351453 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS1553351532 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553351549 MSH2 Health Risk Likely pathogenic Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS1553351592 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553351618 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1553351651 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553351657 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1553351682 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553351739 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352366 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553352377 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352435 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352462 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352474 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553352505 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553352545 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352559 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553352792 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS1553352926 BCL11A Health Risk Pathogenic Inborn genetic diseases, Dias-Logan syndrome
RS1553353022 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Marfanoid habitus and intellectual disability
RS1553353092 BCL11A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553353105 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553353114 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553353141 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553353157 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553353167 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1553353205 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1553353206 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553353226 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553353233 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1553353246 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553353378 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1553353452 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome 4
RS1553353527 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1553354119 NDUFAF7 Health Risk Likely pathogenic —
RS1553354396 SOS1 Health Risk Likely pathogenic Inborn genetic diseases, Fibromatosis
RS1553354488 PCARE Health Risk Pathogenic —
RS1553354522 FAM161A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553354660 PCARE Health Risk Pathogenic/Likely pathogenic —
RS1553354668 BCL11A Health Risk Pathogenic —
RS1553354826 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS1553354861 FAM161A Health Risk Pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1553354926 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1553354952 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1553354956 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1553354962 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS1553354980 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1553356111 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, See cases
RS1553356452 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Tricho-oculo-dermo-vertebral syndrome
RS1553356484 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553356518 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553356523 MSH2 Health Risk Likely pathogenic —
RS1553356552 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553356594 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553356605 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553356617 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553356643 MSH2 Health Risk Pathogenic —
RS1553356646 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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