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
RS63750150 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750152 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750158 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS63750160 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750161 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750162 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS63750192 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750193 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750194 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750196 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750198 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750199 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750200 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750203 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750205 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, beta Thalassemia
RS63750206 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Mismatch repair cancer syndrome 1
RS63750210 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750211 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750212 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750214 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750215 PSEN2 Health Risk Pathogenic Alzheimer disease 4, Alzheimer disease 4
RS63750216 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750217 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750218 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750219 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Alzheimer disease
RS63750223 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63750224 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Endometrial carcinoma
RS63750226 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750227 PSEN1 Health Risk Conflicting classifications of pathogenicity Pick disease, Frontotemporal dementia
RS63750230 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750231 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750232 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750233 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750234 MSH2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome 1
RS63750242 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750245 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750246 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750247 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750248 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Pick disease
RS63750250 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750253 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63750257 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS63750258 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750261 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750262 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750264 APP Health Risk Pathogenic Alzheimer disease, Alzheimer disease type 1
RS63750265 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63750266 MLH1 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS63750267 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750271 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750273 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750276 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750279 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750280 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750281 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750282 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750283 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63750287 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750289 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750291 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750292 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750293 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750294 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS63750296 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750297 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750298 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63750300 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750301 PSEN1 Health Risk Pathogenic/Likely pathogenic Dementia, Mental deterioration
RS63750302 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750303 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750305 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750306 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750308 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750309 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS63750310 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750311 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750312 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750313 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750314 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750315 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS63750316 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750317 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750318 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750319 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750320 HBB Health Risk Likely pathogenic Hemoglobinopathy, Hemoglobinopathy
RS63750322 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Pick disease
RS63750323 PSEN1 Health Risk Pathogenic Pick disease, Thyroid cancer
RS63750327 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750328 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS63750329 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750330 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750331 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750334 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750335 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750337 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750339 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750342 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750345 HBD Health Risk Pathogenic delta Thalassemia, delta Thalassemia
RS63750346 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750347 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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