rs121912815, CHAT

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.
Familial infantile myasthenia
CUI: C0393929
Disease: Familial infantile myasthenia
16 1.000 0.200 10 49620546 missense variant C/G snv 7.0E-06 0.800 1.000 2 2001 2003