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
RS63751013 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751015 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751017 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751018 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751020 GRN Health Risk Likely pathogenic —
RS63751021 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS63751022 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63751023 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS63751024 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751027 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751028 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751029 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751032 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63751035 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia
RS63751036 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63751037 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63751039 APP Health Risk Pathogenic ABeta amyloidosis, Arctic type
RS63751044 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colon cancer
RS63751045 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751049 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751054 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751055 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751056 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751057 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Adult onset neurodegenerative disorder
RS63751058 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751059 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751061 NDUFAF4 Health Risk Pathogenic Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS63751063 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63751068 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63751069 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751070 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63751073 FAM171A2;GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751074 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751076 HBB Health Risk Likely pathogenic Beta zero thalassemia, Hemoglobinopathy
RS63751077 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751079 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751081 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751083 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS63751085 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751086 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63751087 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751089 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Muir-Torré syndrome
RS63751090 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751092 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751094 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751097 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751099 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751100 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751101 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751102 PSEN1 Health Risk Pathogenic Adult onset neurodegenerative disorder, Adult onset neurodegenerative disorder
RS63751105 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751106 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751107 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751108 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome
RS63751109 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Colorectal cancer
RS63751110 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751111 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63751113 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751115 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751117 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751118 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751119 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751120 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751121 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751123 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751124 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63751125 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751126 CHMP2B Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
RS63751127 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751128 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS63751129 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751130 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Alzheimer disease 3
RS63751131 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751132 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS63751133 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751136 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63751137 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751139 PSEN1 Health Risk Pathogenic Early-onset autosomal dominant Alzheimer disease, Pick disease
RS63751140 MSH2 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751141 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751142 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751143 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751144 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751145 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751147 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751149 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751150 HBA1 Health Risk Pathogenic HEMOGLOBIN TAYBE, alpha Thalassemia
RS63751153 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751155 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751156 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751158 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63751159 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751160 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751161 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751163 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751165 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63751166 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751167 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751169 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
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