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: rs397514619
rs397514619
ATP2B3
2 0.925 0.080 X 153565081 missense variant G/A snv 0.800 1.000 1 2012 2012