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
RS63750513 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63750515 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750516 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750517 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750520 HBA2 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN WAYNE, alpha Thalassemia
RS63750521 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750523 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS63750526 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750527 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750532 HBB Health Risk Pathogenic Beta zero thalassemia, Hemoglobinopathy
RS63750533 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750534 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS63750538 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750539 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750540 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750541 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750542 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750545 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750547 MLH1 Health Risk Pathogenic Lynch syndrome, Colon cancer
RS63750548 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750549 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS63750550 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750551 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750552 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 5
RS63750554 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750555 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS63750556 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS63750557 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750558 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750559 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750560 OSMR Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS63750561 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750563 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750564 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750567 OSMR Health Risk Likely pathogenic Amyloidosis, primary localized cutaneous
RS63750568 MAPT Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750570 MAPT Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS63750571 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750572 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750574 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750577 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS63750579 APP Health Risk Pathogenic ABeta amyloidosis, dutch type
RS63750580 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750581 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750582 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750583 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750584 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS63750586 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750587 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750589 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750590 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63750592 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease 3
RS63750597 MSH2 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750599 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease, familial
RS63750600 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS63750602 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS63750603 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome 1
RS63750604 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750608 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63750610 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750611 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750614 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750615 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750617 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750618 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750622 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63750623 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750624 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750628 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Hb SS disease
RS63750630 MSH2 Health Risk Likely pathogenic Lynch syndrome, Colonic diverticula
RS63750631 PSEN1 Health Risk Pathogenic Alzheimer disease, familial
RS63750633 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750635 MAPT Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63750636 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750639 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750640 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750641 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750642 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750643 APP Health Risk Pathogenic Alzheimer disease type 1, Alzheimer disease
RS63750644 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750645 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750646 PSEN1 Health Risk Pathogenic —
RS63750647 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63750648 MLH1 Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS63750649 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS63750652 CHMP2B Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Cervical cancer
RS63750654 HBG2 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS63750656 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS63750657 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS63750658 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750662 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63750663 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch-like syndrome
RS63750668 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS63750669 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS63750670 ACADVL Health Risk Pathogenic Rhabdomyolysis, Abnormal circulating enzyme concentration
RS63750671 APP Health Risk Pathogenic ABetaA21G amyloidosis, Alzheimer disease type 1
RS63750675 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63750677 MLH1 Health Risk Pathogenic Lynch syndrome, Muir-Torré syndrome
RS63750678 HBA2 Health Risk Pathogenic Hemoglobin H disease, nondeletional
RS63750682 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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