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: rs7212938
rs7212938
GSDMA
2 0.925 0.120 17 39966427 missense variant G/A;C;T snv 4.1E-04; 4.2E-06; 0.52 0.820 0.750 4 2011 2015