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
RS63751172 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63751173 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63751175 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, HBB-related disorder
RS63751177 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751180 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751191 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751192 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63751193 GRN Health Risk Pathogenic —
RS63751194 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63751195 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751197 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63751199 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751200 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751201 HBB Health Risk Pathogenic; other Beta zero thalassemia, HEMOGLOBIN MANHATTAN
RS63751202 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS63751206 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751207 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome
RS63751208 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS63751210 PSEN1 Health Risk Pathogenic/Likely pathogenic Pick disease, Frontotemporal dementia
RS63751211 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751214 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751215 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63751218 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63751219 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751220 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS63751221 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63751223 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Pick disease
RS63751224 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751225 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63751226 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colon cancer
RS63751227 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751228 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751229 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751232 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63751234 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS63751235 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Early-onset autosomal dominant Alzheimer disease
RS63751236 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751240 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751241 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63751243 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751244 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751246 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751247 MLH1 Health Risk Pathogenic Mismatch repair cancer syndrome 1, Lynch syndrome
RS63751255 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63751257 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS63751259 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751260 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751264 MAPT Health Risk Pathogenic Pick disease, Pick disease
RS63751265 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS63751266 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751268 HBA2 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Heinz body anemia
RS63751269 HBA2 Health Risk Pathogenic alpha Thalassemia, Hemoglobin H disease
RS63751270 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751271 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751272 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751273 MAPT Health Risk Pathogenic Frontotemporal dementia, Pick disease
RS63751274 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751275 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751277 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751278 PSEN1 Health Risk Pathogenic/Likely pathogenic Pick disease, Frontotemporal dementia
RS63751283 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751287 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63751288 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751290 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751291 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751294 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751296 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751297 ASPA Health Risk Pathogenic/Likely pathogenic Canavan Disease, Familial Form
RS63751298 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63751299 MSH2 Health Risk Pathogenic Lynch syndrome, Uterine corpus cancer
RS63751300 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751301 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751302 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63751306 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63751307 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751309 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63751310 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751312 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63751315 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751316 PSEN1 Health Risk Pathogenic/Likely pathogenic Pick disease, Frontotemporal dementia
RS63751317 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751318 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63751319 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 5
RS63751321 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751325 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63751326 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751327 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751328 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751391 MAPT Health Risk Pathogenic Supranuclear palsy, progressive
RS63751392 MAPT Health Risk Pathogenic Parkinson disease, late-onset
RS63751393 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751394 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63751396 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63751399 PSEN1 Health Risk Likely pathogenic Frontotemporal dementia, Alzheimer disease 3
RS63751401 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63751403 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751405 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751406 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751407 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome
RS63751408 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
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