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
RS2494395471 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494399687 CDH23 Health Risk Pathogenic —
RS2494399871 CDH23 Health Risk Pathogenic —
RS2494400205 CDH23 Health Risk Pathogenic —
RS2494400341 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494400346 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494400537 CDH23 Health Risk Pathogenic —
RS2494400595 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494403161 CDH23 Health Risk Pathogenic —
RS2494403195 DEAF1 Health Risk Pathogenic —
RS2494403239 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS2494403705 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494403988 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS2494405112 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494412874 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2494413662 HPS5 Health Risk Likely pathogenic —
RS2494414370 HPS5 Health Risk Pathogenic —
RS2494416408 CDH23 Health Risk Pathogenic —
RS2494416446 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494416989 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494417319 DEAF1 Health Risk Likely pathogenic —
RS2494417367 DEAF1 Health Risk Likely pathogenic —
RS2494418097 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494418118 DEAF1 Health Risk Pathogenic —
RS2494418701 CDH23 Health Risk Pathogenic —
RS2494418926 HPS5 Health Risk Likely pathogenic HPS5-related disorder, HPS5-related disorder
RS2494419179 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494421263 NHLRC2 Health Risk Likely pathogenic Fibrosis, neurodegeneration
RS2494425752 WT1 Health Risk Likely pathogenic WT1-related disorder, WT1-related disorder
RS2494426254 CDH23 Health Risk Likely pathogenic —
RS2494426569 WT1 Health Risk Pathogenic WT1-related disorder, WT1-related disorder
RS2494426706 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, WT1-related disorder
RS2494426938 CDH23 Health Risk Pathogenic —
RS2494427004 CDH23 Health Risk Pathogenic —
RS2494428527 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494428598 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494428671 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494428989 CDH23 Health Risk Pathogenic —
RS2494431103 WT1 Health Risk Pathogenic Drash syndrome, Drash syndrome
RS2494432008 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2494433582 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2494433846 CDH23 Health Risk Pathogenic —
RS2494434951 CDH23 Health Risk Pathogenic —
RS2494435164 CDH23 Health Risk Pathogenic —
RS2494435751 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494435806 CDH23 Health Risk Pathogenic —
RS2494435923 CDH23 Health Risk Pathogenic —
RS2494436560 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494436715 CDH23 Health Risk Likely pathogenic —
RS2494437791 DEAF1 Health Risk Pathogenic —
RS2494438025 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494438104 DEAF1 Health Risk Likely pathogenic —
RS2494438272 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS2494443851 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494443985 CDH23 Health Risk Likely pathogenic —
RS2494444180 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494444651 HPS5 Health Risk Pathogenic —
RS2494444704 CDH23 Health Risk Pathogenic —
RS2494444781 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494447941 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494448292 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS2494448372 DEAF1 Health Risk Pathogenic —
RS2494448566 DEAF1 Health Risk Likely pathogenic —
RS2494448656 DEAF1 Health Risk Pathogenic —
RS2494448970 DEAF1 Health Risk Likely pathogenic —
RS2494451258 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494451548 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS2494451599 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494454909 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS2494454945 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS2494454966 DEAF1 Health Risk Pathogenic —
RS2494455320 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS2494457103 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494457225 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494457955 DEAF1 Health Risk Likely pathogenic —
RS2494458114 DEAF1 Health Risk Pathogenic —
RS2494459588 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS2494459662 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494459916 CDH23 Health Risk Pathogenic —
RS2494464522 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494464632 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494464646 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494464815 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494465030 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494465488 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494469980 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS2494474867 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2494475674 WT1 Health Risk Pathogenic WT1-related disorder, WT1-related disorder
RS2494476025 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494476048 HPS5 Health Risk Pathogenic —
RS2494476622 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494476718 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494476827 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494477759 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494478049 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS2494478145 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2494478246 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2494480771 WT1 Health Risk Pathogenic/Likely pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2494481609 WT1 Health Risk Pathogenic WT1-related disorder, WT1-related disorder
RS2494482513 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
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