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
RS63749984 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749985 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS63749986 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749990 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS63749991 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749993 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749994 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63749995 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749999 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750001 PSEN1 Health Risk Likely pathogenic —
RS63750004 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750005 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750006 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750008 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750009 PSEN1 Health Risk Likely pathogenic Alzheimer disease, Alzheimer disease
RS63750012 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1
RS63750013 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750015 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750016 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Colorectal cancer
RS63750018 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750019 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750020 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750027 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750028 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750029 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 1
RS63750034 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750035 MLH1 Health Risk Pathogenic Mismatch repair cancer syndrome 1, Colorectal cancer
RS63750036 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750037 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750039 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750042 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750044 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750046 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750047 MSH2 Health Risk Pathogenic Muir-Torré syndrome, Lynch syndrome
RS63750048 PSEN2 Health Risk Pathogenic Alzheimer disease 4, Alzheimer disease 4
RS63750049 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome
RS63750050 PSEN1 Health Risk Pathogenic/Likely pathogenic Acne inversa, familial
RS63750052 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750053 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750054 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750057 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750058 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750059 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750060 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750061 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750062 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750064 APP Health Risk Likely pathogenic —
RS63750065 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750066 APP Health Risk Likely pathogenic Alzheimer disease type 1, Alzheimer disease
RS63750067 HBA2 Health Risk Pathogenic/Likely pathogenic Alpha-thalassemia-2, nondeletional
RS63750068 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750069 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750070 MSH2 Health Risk Pathogenic Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS63750071 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750075 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750077 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750078 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750079 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS63750081 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750082 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750083 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Pick disease
RS63750084 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750086 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750087 MSH2 Health Risk Pathogenic Lynch syndrome, Neoplasm
RS63750088 MSH2 Health Risk Pathogenic Lynch syndrome, Mismatch repair cancer syndrome 1
RS63750090 HBA1 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Methemoglobinemia
RS63750091 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750092 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750094 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750095 MAPT Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750096 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS63750097 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750098 MLH1 Health Risk Pathogenic Lynch syndrome, Mismatch repair cancer syndrome 1
RS63750099 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63750102 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750103 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750104 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750106 PMS2 Health Risk Pathogenic Lynch syndrome, Mismatch repair cancer syndrome 4
RS63750107 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750108 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750109 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750111 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750113 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750114 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750115 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750119 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750124 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750126 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750128 HBB Health Risk Pathogenic beta Thalassemia, Hemoglobinopathy
RS63750129 MAPT Health Risk Pathogenic Pick disease, Pick disease
RS63750131 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750132 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS63750138 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750139 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 5
RS63750140 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750141 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome
RS63750143 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750144 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750146 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750149 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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