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: rs132630274
rs132630274
WAS
4 0.882 0.120 X 48688331 missense variant T/C snv 0.810 1.000 1 2001 2001
dbSNP: rs782290433
rs782290433
WAS
3 0.882 0.120 X 48684373 missense variant G/A snv 5.5E-06 0.700 1.000 13 1995 2017
dbSNP: rs1557006239
rs1557006239
WAS
3 0.882 0.120 X 48683944 missense variant G/A snv 0.700 1.000 10 1995 2017
dbSNP: rs132630268
rs132630268
WAS
3 0.882 0.120 X 48684407 missense variant G/A;C;T snv 0.700 1.000 9 1997 2013
dbSNP: rs1557007123
rs1557007123
WAS
3 0.882 0.120 X 48688689 stop gained C/T snv 0.700 1.000 6 1995 2015
dbSNP: rs1569493877
rs1569493877
WAS
3 0.882 0.120 X 48686957 splice donor variant T/A snv 0.700 1.000 2 2004 2015
dbSNP: rs1569494025
rs1569494025
WAS
3 0.882 0.120 X 48688724 frameshift variant G/- delins 0.700 1.000 2 1996 2002
dbSNP: rs1057517845
rs1057517845
WAS
3 0.882 0.120 X 48688097 splice donor variant G/A snv 0.700 0
dbSNP: rs1557006354
rs1557006354
WAS
3 0.882 0.120 X 48684421 stop gained C/T snv 0.700 0
dbSNP: rs1557007165
rs1557007165
WAS
1 1.000 0.080 X 48688782 frameshift variant C/- delins 0.700 0
dbSNP: rs201117839
rs201117839
ELANE
1 1.000 0.080 19 855957 splice acceptor variant G/A snv 1.2E-05 0.700 0
dbSNP: rs387906716
rs387906716
WAS
1 1.000 0.080 X 48688336 missense variant T/C snv 0.700 0
dbSNP: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.700 0
dbSNP: rs572057906
rs572057906
RALGPS1 ; ANGPTL2
2 0.925 0.120 9 127107920 missense variant G/A snv 5.2E-06 0.010 1.000 1 2001 2001