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: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.700 0
dbSNP: rs137852312
rs137852312
GATA1
3 0.882 0.120 X 48792346 missense variant GG/TC mnv 0.700 0