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
RS2548555289 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555301 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2548555307 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548555532 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555667 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548555793 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555829 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548555876 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548555893 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548556239 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2548556248 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548557919 ATP2A2 Health Risk Pathogenic —
RS2548561116 ATP2A2 Health Risk Likely pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2548561345 ATP2A2 Health Risk Pathogenic —
RS2548561448 UBE3B Health Risk Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2548561932 BRCA2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2548561959 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548561967 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548562009 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562101 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2548562157 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548562206 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548562252 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562287 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562319 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548562327 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562350 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548562367 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, BRCA2-related disorder
RS2548562386 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562468 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548562505 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2548562544 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563282 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2548563297 ATP2A2 Health Risk Likely pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2548563592 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563596 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563661 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548563732 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2548563744 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563785 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563794 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548564094 ATP2A2 Health Risk Pathogenic —
RS2548564104 ATP2A2 Health Risk Likely pathogenic —
RS2548564652 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564685 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564737 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2548564773 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548564784 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564800 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548564872 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548565181 ATP2A2 Health Risk Likely pathogenic —
RS2548565742 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2548565787 UBE3B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, Blepharophimosis - intellectual disability syndrome
RS2548566690 ATP2A2 Health Risk Pathogenic —
RS2548575169 UBE3B Health Risk Pathogenic —
RS2548575756 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS2548577530 UBE3B Health Risk Pathogenic —
RS2548581513 RUNX2 Health Risk Likely pathogenic —
RS2548581688 RUNX2 Health Risk Pathogenic —
RS2548581742 RUNX2 Health Risk Pathogenic —
RS2548581758 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2548581809 RUNX2 Health Risk Pathogenic —
RS2548581818 RUNX2 Health Risk Pathogenic —
RS2548581855 RUNX2 Health Risk Pathogenic —
RS2548582134 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2548582226 RUNX2 Health Risk Pathogenic —
RS2548582230 RUNX2 Health Risk Likely pathogenic —
RS2548582244 RUNX2 Health Risk Pathogenic —
RS2548584165 CPLANE1 Health Risk Pathogenic —
RS2548585932 CPLANE1 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2548588606 NALCN Health Risk Pathogenic —
RS2548588658 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2548588794 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2548589063 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2548589112 RUNX2 Health Risk Likely pathogenic —
RS2548589176 RUNX2 Health Risk Likely pathogenic —
RS2548589234 RUNX2 Health Risk Pathogenic —
RS2548589263 RUNX2 Health Risk Pathogenic —
RS2548589267 RUNX2 Health Risk Pathogenic —
RS2548589271 RUNX2 Health Risk Pathogenic —
RS2548589285 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2548589416 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS2548591444 ADAMTS17 Health Risk Pathogenic —
RS2548591542 ADAMTS17 Health Risk Pathogenic —
RS2548593491 RUNX2 Health Risk Likely pathogenic —
RS2548593499 RUNX2 Health Risk Pathogenic —
RS2548593538 RUNX2 Health Risk Pathogenic —
RS2548593549 RUNX2 Health Risk Pathogenic —
RS2548593562 RUNX2 Health Risk Pathogenic —
RS2548593578 RUNX2 Health Risk Pathogenic —
RS2548593597 RUNX2 Health Risk Pathogenic —
RS2548597368 WNK1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2548602004 CPLANE1 Health Risk Likely pathogenic —
RS2548602308 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548603971 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548604009 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548604090 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548604098 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548604300 CPLANE1 Health Risk Pathogenic —
RS2548604750 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
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