rs863223313, CHRNG

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.
Multiple pterygium syndrome
CUI: C0265261
Disease: Multiple pterygium syndrome
11 1.000 0.120 2 232540660 inframe insertion -/AGGGTGCCG delins 0.700 0