rs119103290, EXT1

N. diseases: 1
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
49 1.000 0.120 8 117837146 missense variant G/A snv 0.700 1.000 12 1997 2016