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: rs34667348
rs34667348
PHKB
2 0.925 0.080 16 47650919 stop gained C/A;T snv 2.8E-03; 9.6E-05 0.700 1.000 1 1997 1997
dbSNP: rs121908991
rs121908991
PRKAG2
6 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
dbSNP: rs137852288
rs137852288
PHKA2 ; PHKA2-AS1
2 0.925 0.080 X 18893579 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs367696431
rs367696431
PHKA2
1 1.000 0.080 X 18941672 missense variant T/C;G snv 5.5E-06; 5.5E-06 0.010 1.000 1 2017 2017