Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2005 2008
dbSNP: rs121908990
rs121908990
PRKAG2
5 0.827 0.120 7 151560611 missense variant G/A;C snv 0.010 1.000 1 2001 2001