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: rs797044558
rs797044558
ABCB7
2 0.925 0.160 X 75053585 missense variant C/T snv 0.010 < 0.001 1 2016 2016