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
RS63749831 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome
RS63749832 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749834 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63749836 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Dilated cardiomyopathy 1U
RS63749837 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749838 MLH1 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS63749839 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749843 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749844 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749845 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749846 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Lynch syndrome 1
RS63749848 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749849 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749850 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749851 PSEN2 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 4, Alzheimer disease 4
RS63749852 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749853 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749854 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749855 MAPT Health Risk Pathogenic —
RS63749856 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS63749859 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749862 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63749863 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749867 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749868 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749869 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS63749871 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
RS63749872 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749873 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63749874 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749876 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749877 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63749878 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749880 PSEN1 Health Risk Pathogenic —
RS63749882 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN O (BUGINESE-X), HEMOGLOBIN O (OLIVIERE)
RS63749884 PSEN2 Health Risk Pathogenic Alzheimer disease 4, Alzheimer disease 4
RS63749885 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63749886 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749887 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749888 CISD2 Health Risk Pathogenic Wolfram syndrome 2, Wolfram syndrome 2
RS63749889 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749891 PSEN1 Health Risk Pathogenic Alzheimer disease, familial
RS63749893 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS63749897 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749899 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63749900 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749902 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63749903 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63749905 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63749906 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749907 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749908 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749909 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749912 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS63749913 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749914 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63749915 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749916 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749917 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749919 MSH6 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63749920 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749923 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749924 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749925 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Acne inversa
RS63749926 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749927 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN J (BIRMINGHAM), HEMOGLOBIN J (MEERUT)
RS63749929 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749930 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749932 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749936 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749938 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 5
RS63749939 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS63749942 MSH6 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749944 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749945 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749947 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749948 HBA1 Health Risk Likely pathogenic HEMOGLOBIN PETAH TIKVA, alpha Thalassemia
RS63749949 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63749950 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749953 APP Health Risk Conflicting classifications of pathogenicity APP-related disorder, APP-related disorder
RS63749955 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63749956 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749957 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63749959 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749960 HBB Health Risk Pathogenic beta Thalassemia, Beta-thalassemia HBB/LCRB
RS63749963 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749964 APP Health Risk Pathogenic Alzheimer disease type 1, Alzheimer disease type 1
RS63749965 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749969 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63749971 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749972 CCNQ Health Risk Pathogenic Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS63749973 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63749974 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63749975 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63749977 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63749979 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749980 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749981 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749982 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749983 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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