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
RS63750843 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750844 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch-like syndrome
RS63750845 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750849 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750850 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750851 APP Health Risk Pathogenic Alzheimer disease, Alzheimer disease
RS63750854 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750855 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750857 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750858 PSEN1 Health Risk Likely pathogenic Visual hallucination, Dementia
RS63750859 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750864 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1
RS63750865 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750866 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750867 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750868 APP Health Risk Pathogenic APP-related disorder, APP-related disorder
RS63750869 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, MAPT-related disorder
RS63750870 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750871 PMS2 Health Risk Pathogenic Mismatch repair cancer syndrome 4, Lynch syndrome
RS63750872 MSH2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome 1
RS63750873 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750874 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750875 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750876 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750877 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750878 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750881 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750882 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750884 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750885 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750886 PSEN1 Health Risk Pathogenic Spastic paraparesis, Alzheimer disease 3
RS63750887 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750889 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750891 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750893 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750894 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750896 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750899 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750900 PSEN1 Health Risk Pathogenic Alzheimer disease 4, Pick disease
RS63750901 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS63750902 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750903 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750904 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750906 MLH1 Health Risk Pathogenic Lynch syndrome, Carcinoma of colon
RS63750908 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750909 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 5
RS63750910 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750912 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750913 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750921 APP Health Risk Likely pathogenic CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
RS63750924 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750928 HBB Health Risk Likely pathogenic HEMOGLOBIN LEIDEN, HEMOGLOBIN LEIDEN
RS63750929 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750930 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS63750933 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750934 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750936 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750937 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS63750938 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750940 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 5
RS63750947 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750948 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750949 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750950 HBA1 Health Risk Pathogenic; other HEMOGLOBIN SASSARI, Erythrocytosis
RS63750951 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750952 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750953 HBB Health Risk Conflicting classifications of pathogenicity Beta thalassemia intermedia, 8 conditions
RS63750954 HBB Health Risk Conflicting classifications of pathogenicity BETA-PLUS-THALASSEMIA, beta Thalassemia
RS63750955 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome
RS63750957 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750959 MAPT Health Risk Pathogenic Frontotemporal dementia, Supranuclear palsy
RS63750960 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750961 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750962 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750963 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750964 PSEN1 Health Risk Pathogenic Early onset Alzheimer disease with behavioral disturbance, Alzheimer disease 3
RS63750966 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750970 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 1
RS63750971 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750972 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750973 APP Health Risk Pathogenic Alzheimer disease type 1, Alzheimer disease
RS63750978 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750984 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750985 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750986 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750987 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750993 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750994 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS63750995 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750996 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750997 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750998 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751001 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63751003 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Frontotemporal dementia
RS63751004 MSH2 Health Risk Pathogenic Carcinoma of colon, Lynch syndrome 1
RS63751006 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751007 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63751009 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751011 MAPT Health Risk Likely pathogenic Frontotemporal dementia, Mental deterioration
RS63751012 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
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