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
RS397507508 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS397507509 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome 1
RS397507510 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 3, Cardiovascular phenotype
RS397507511 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome
RS397507512 PTPN11 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397507513 PTPN11 Health Risk Likely pathogenic Noonan syndrome 1, RASopathy
RS397507514 PTPN11 Health Risk Pathogenic RASopathy, Noonan syndrome
RS397507517 PTPN11 Health Risk Likely pathogenic RASopathy, Noonan syndrome
RS397507518 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 3
RS397507519 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS397507520 PTPN11 Health Risk Pathogenic RASopathy, Juvenile myelomonocytic leukemia
RS397507523 PTPN11 Health Risk Pathogenic/Likely pathogenic RASopathy, Noonan syndrome 1
RS397507524 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS397507525 PTPN11 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397507526 PTPN11 Health Risk Pathogenic Noonan syndrome 1, RASopathy
RS397507527 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397507528 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Metachondromatosis
RS397507529 PTPN11 Health Risk Pathogenic RASopathy, Noonan syndrome with multiple lentigines
RS397507530 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 1
RS397507531 PTPN11 Health Risk Pathogenic/Likely pathogenic LEOPARD syndrome 1, Noonan syndrome 1
RS397507536 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, RASopathy
RS397507537 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome with multiple lentigines
RS397507539 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 1
RS397507540 PTPN11 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397507541 PTPN11 Health Risk Pathogenic/Likely pathogenic RASopathy, LEOPARD syndrome 1
RS397507542 PTPN11 Health Risk Likely pathogenic RASopathy, LEOPARD syndrome 1
RS397507543 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397507544 PTPN11 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397507545 PTPN11 Health Risk Pathogenic RASopathy, Noonan syndrome 1
RS397507546 PTPN11 Health Risk Pathogenic RASopathy, LEOPARD syndrome 1
RS397507547 PTPN11 Health Risk Pathogenic RASopathy, Noonan syndrome
RS397507548 PTPN11 Health Risk Pathogenic RASopathy, LEOPARD syndrome 1
RS397507549 PTPN11 Health Risk Pathogenic Embryonal rhabdomyosarcoma, RASopathy
RS397507550 PTPN11 Health Risk Pathogenic RASopathy, Cardiovascular phenotype
RS397507552 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS397507553 FANCA;ZNF276 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS397507554 RPS7 Health Risk Pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS397507555 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS397507556 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Long QT syndrome
RS397507559 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS397507560 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS397507561 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS397507562 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis
RS397507563 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Incidental Discovery
RS397507568 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507569 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507570 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507571 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507572 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507573 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507574 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507575 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507576 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast-ovarian cancer
RS397507577 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507578 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507579 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507580 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507581 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast-ovarian cancer
RS397507583 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507584 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507586 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507587 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507588 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507589 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507591 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507592 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507593 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507594 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507597 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507598 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507599 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507600 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507601 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507602 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507603 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast-ovarian cancer
RS397507604 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS397507605 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507606 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507607 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507608 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507610 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507611 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507612 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507613 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507614 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507615 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397507616 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507617 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507618 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507619 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507620 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397507621 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507623 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507624 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507625 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507627 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397507628 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507629 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507630 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397507631 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
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