rs1554656288, EXT1

N. diseases: 1
Source: ALL
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
51 1.000 0.120 8 117799894 frameshift variant A/- delins 0.700 1.000 3 2001 2015