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: rs1057519051
rs1057519051
SLC22A5
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs104894815
rs104894815
GATA1
9 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs587776454
rs587776454
GATA1
4 0.851 0.160 X 48792346 missense variant G/A;C snv 0.010 1.000 1 2005 2005