rs137852801, CHRNA1

N. diseases: 2
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.
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
8 0.925 0.120 2 174754242 missense variant C/T snv 0.800 1.000 5 1995 2006
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
13 0.925 0.120 2 174754242 missense variant C/T snv 0.700 1.000 3 1982 1997