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
RS63750349 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750352 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750353 PSEN1 Health Risk Likely pathogenic Pick disease, Frontotemporal dementia
RS63750355 CHMP2B Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
RS63750356 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750357 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750358 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750361 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750362 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750364 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS63750367 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS63750368 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750370 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS63750373 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750375 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750376 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750377 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750379 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750380 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750382 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750384 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750385 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750386 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750391 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750393 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750396 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750398 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750399 APP Health Risk Pathogenic Alzheimer disease type 1, Alzheimer disease
RS63750400 HBB Health Risk Pathogenic beta Thalassemia, HBB-related disorder
RS63750401 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750402 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750403 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750406 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750408 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750409 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750410 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750411 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63750413 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS63750414 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750418 PSEN1 Health Risk Likely pathogenic —
RS63750420 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750424 MAPT Health Risk Pathogenic Frontotemporal dementia, MAPT-related disorder
RS63750425 MAPT Health Risk Pathogenic Supranuclear palsy, progressive
RS63750426 MSH2 Health Risk Pathogenic Lynch syndrome, Carcinoma of colon
RS63750427 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder
RS63750428 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750430 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750432 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750434 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750437 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750439 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750440 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 5
RS63750442 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750443 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750446 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750449 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750450 PSEN1 Health Risk Pathogenic/Likely pathogenic Pick disease, Frontotemporal dementia
RS63750451 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Lynch syndrome
RS63750453 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750456 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750457 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS63750458 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750459 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Abnormality of the eye
RS63750462 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750463 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750464 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750465 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750468 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750469 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750470 PSEN1 Health Risk Pathogenic Alzheimer disease, familial
RS63750471 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750472 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63750473 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750474 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750475 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63750476 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750477 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750480 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750482 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750483 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750484 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750486 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750488 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 1
RS63750489 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750490 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750491 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750493 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750494 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750495 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750496 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750498 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750499 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch-like syndrome
RS63750500 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750501 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750502 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750504 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63750507 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750508 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750511 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750512 MAPT Health Risk Pathogenic/Likely pathogenic Pick disease, Frontotemporal dementia
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