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: rs132630268
rs132630268
WAS
3 0.882 0.120 X 48684407 missense variant G/A;C;T snv 0.710 1.000 19 1994 2013
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: rs132630272
rs132630272
WAS
2 0.925 0.120 X 48684394 missense variant T/C snv 0.700 1.000 12 1995 2010
dbSNP: rs132630273
rs132630273
WAS
3 0.925 0.120 X 48684284 missense variant C/T snv 0.700 1.000 12 1995 2010
dbSNP: rs139857045
rs139857045
WAS
1 1.000 0.120 X 48684416 missense variant G/A snv 5.2E-05 1.1E-04 0.700 1.000 12 1995 2010
dbSNP: rs146220228
rs146220228
WAS
1 1.000 0.120 X 48685764 missense variant G/A snv 2.6E-03 2.2E-03 0.700 1.000 12 1995 2010
dbSNP: rs1557006239
rs1557006239
WAS
3 0.882 0.120 X 48683944 missense variant G/A snv 0.700 1.000 10 1995 2017
dbSNP: rs1064793293
rs1064793293
WAS
1 1.000 0.120 X 48689434 missense variant G/A snv 0.700 1.000 6 1999 2011
dbSNP: rs1557007123
rs1557007123
WAS
3 0.882 0.120 X 48688689 stop gained C/T snv 0.700 1.000 6 1995 2015
dbSNP: rs1557007312
rs1557007312
WAS
1 1.000 0.120 X 48688994 frameshift variant -/G delins 0.700 1.000 5 1995 2014
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: rs1557006474
rs1557006474
WAS
1 1.000 0.120 X 48685563 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057517845
rs1057517845
WAS
3 0.882 0.120 X 48688097 splice donor variant G/A snv 0.700 0
dbSNP: rs1057520700
rs1057520700
WAS
3 1.000 0.120 X 48685634 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs132630271
rs132630271
WAS
1 1.000 0.120 X 48683953 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs1557006354
rs1557006354
WAS
3 0.882 0.120 X 48684421 stop gained C/T snv 0.700 0
dbSNP: rs1557006672
rs1557006672
WAS
1 1.000 0.120 X 48686128 stop gained C/T snv 0.700 0
dbSNP: rs1557007035
rs1557007035
WAS
1 1.000 0.120 X 48688373 frameshift variant C/- delins 0.700 0
dbSNP: rs193922414
rs193922414
WAS
1 1.000 0.120 X 48685583 stop gained C/G;T snv 6.1E-06 0.700 0
dbSNP: rs193922415
rs193922415
WAS
1 1.000 0.120 X 48683890 stop gained C/T snv 0.700 0
dbSNP: rs193922416
rs193922416
WAS
1 1.000 0.120 X 48688077 frameshift variant -/C delins 0.700 0
dbSNP: rs587776742
rs587776742
WAS
1 1.000 0.120 X 48683854 start lost A/T snv 0.700 0
dbSNP: rs587776743
rs587776743
WAS
1 1.000 0.120 X 48685760 inframe insertion -/ACGAGG delins 0.700 0
dbSNP: rs587776744
rs587776744
WAS
1 1.000 0.120 X 48688821 frameshift variant G/- delins 0.700 0