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
RS63750684 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750685 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750686 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750687 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease familial 3
RS63750688 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS63750689 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750690 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750691 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750692 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63750693 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750695 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750697 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750700 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750701 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750703 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750704 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750706 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750707 GRN Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750709 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750710 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS63750711 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750712 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750713 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750715 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750717 HBB Health Risk Conflicting classifications of pathogenicity —
RS63750722 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750725 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS63750726 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750728 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750730 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750731 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750732 MSH2 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, non-polyposis
RS63750734 APP Health Risk Pathogenic/Likely pathogenic Alzheimer disease type 1, Alzheimer disease
RS63750735 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750736 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750737 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750738 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750740 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750741 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750742 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63750743 TMEM43 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular cardiomyopathy
RS63750745 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750746 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750748 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750749 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750751 HBA1 Health Risk Pathogenic alpha Thalassemia, Heinz body anemia
RS63750752 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS63750753 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750754 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750756 MAPT Health Risk Pathogenic Frontotemporal dementia, Pick disease
RS63750758 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750759 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750760 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750761 PSEN1 Health Risk Pathogenic Familial Alzheimer disease, Familial Alzheimer disease
RS63750764 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750766 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750767 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750768 GRN Health Risk Pathogenic —
RS63750769 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750770 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750774 HBB Health Risk Pathogenic beta Thalassemia, Hepatocellular carcinoma
RS63750775 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750776 HBA2 Health Risk Likely pathogenic HEMOGLOBIN H HYDROPS FETALIS SYNDROME, HEMOGLOBIN H HYDROPS FETALIS SYNDROME
RS63750777 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750778 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750779 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Pick disease
RS63750780 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750781 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750783 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63750784 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750786 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750790 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750791 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750792 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750793 PMS2 Health Risk Pathogenic Mismatch repair cancer syndrome 4, Lynch syndrome
RS63750794 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750796 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750797 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750800 PSEN1 Health Risk Likely pathogenic —
RS63750803 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750805 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750806 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750807 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750808 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750809 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750810 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750819 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750820 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750821 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750822 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750823 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750824 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750825 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750828 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750832 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750833 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750834 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750836 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63750838 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750840 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN D (OULED RABAH), beta Thalassemia
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