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
RS2518647036 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518647074 STS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2518648459 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518649635 HPS4 Health Risk Pathogenic —
RS2518649819 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518649872 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518652847 PHEX Health Risk Pathogenic —
RS2518652917 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518652924 PHEX Health Risk Pathogenic —
RS2518652941 PHEX Health Risk Pathogenic —
RS2518659982 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518660026 PHEX Health Risk Pathogenic —
RS2518660225 PHEX Health Risk Pathogenic —
RS2518660307 PHEX Health Risk Pathogenic —
RS2518660315 PHEX Health Risk Likely pathogenic —
RS2518664167 PHEX Health Risk Pathogenic —
RS2518664173 PHEX Health Risk Pathogenic —
RS2518664208 PHEX Health Risk Pathogenic —
RS2518664231 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518664344 PHEX Health Risk Pathogenic —
RS2518664384 PHEX Health Risk Pathogenic —
RS2518664469 PHEX Health Risk Likely pathogenic —
RS2518664486 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518664496 PHEX Health Risk Pathogenic —
RS2518664559 PHEX Health Risk Likely pathogenic —
RS2518664568 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518664589 PHEX Health Risk Pathogenic —
RS2518664625 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518664701 PHEX Health Risk Pathogenic —
RS2518664935 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518664988 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518665114 PCNT Health Risk Pathogenic —
RS2518665323 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518665337 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518667376 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518674717 PHEX Health Risk Pathogenic —
RS2518674723 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518674832 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518674891 PHEX Health Risk Likely pathogenic —
RS2518676542 PHEX Health Risk Pathogenic —
RS2518676588 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518676602 PHEX Health Risk Pathogenic —
RS2518676659 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518676673 PHEX Health Risk Pathogenic —
RS2518676799 PHEX Health Risk Pathogenic —
RS2518676884 PHEX Health Risk Pathogenic —
RS2518676906 PHEX Health Risk Pathogenic —
RS2518676960 PHEX Health Risk Pathogenic —
RS2518676978 PHEX Health Risk Pathogenic —
RS2518676990 PHEX Health Risk Likely pathogenic —
RS2518679943 NF2 Health Risk Likely pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2518680037 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518680598 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518681643 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518683298 STS Health Risk Likely pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS2518693616 POLA1 Health Risk Likely pathogenic Inherited aplastic anemia, Inherited aplastic anemia
RS2518696723 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518700813 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518700819 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518701130 PHKA2 Health Risk Pathogenic —
RS2518701661 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518709273 PHEX Health Risk Pathogenic —
RS2518709285 PHEX Health Risk Pathogenic —
RS2518709539 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2518711603 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518712644 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518712770 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518712946 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518713289 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518713587 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518713623 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518713644 PHEX Health Risk Pathogenic —
RS2518713660 PHEX Health Risk Pathogenic —
RS2518713702 PHEX Health Risk Pathogenic —
RS2518713803 PHEX Health Risk Pathogenic —
RS2518713830 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518713930 PHEX Health Risk Pathogenic —
RS2518713954 PHEX Health Risk Pathogenic —
RS2518714042 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518714051 PHEX Health Risk Pathogenic —
RS2518714056 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518726328 STS Health Risk Likely pathogenic STS-related disorder, STS-related disorder
RS2518734000 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2518734591 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2518735622 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518736477 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2518737050 DEPDC5 Health Risk Likely pathogenic —
RS2518744193 AMELX Health Risk Likely pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS2518758535 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS2518759610 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2518759836 PTCHD1 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS2518760163 PTCHD1 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2518760233 PTCHD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518766477 PTCHD1 Health Risk Pathogenic Autism, susceptibility to
RS2518766696 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518766952 PTCHD1 Health Risk Likely pathogenic Autism, susceptibility to
RS2518767420 PTCHD1 Health Risk Likely pathogenic Autism, susceptibility to
RS2518767828 PTCHD1 Health Risk Likely pathogenic —
RS2518768389 DEPDC5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518768537 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
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