Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs132630272
rs132630272
WAS
0.925 0.120 X 48684394 missense variant T/C snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		0.700 1.000 12 1995 2010
dbSNP: rs132630273
rs132630273
WAS
0.925 0.120 X 48684284 missense variant C/T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		0.700 1.000 12 1995 2010
dbSNP: rs139857045
rs139857045
WAS
1.000 0.120 X 48684416 missense variant G/A snv 5.2E-05 1.1E-04
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		0.700 1.000 12 1995 2010
dbSNP: rs146220228
rs146220228
WAS
1.000 0.120 X 48685764 missense variant G/A snv 2.6E-03 2.2E-03
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		0.700 1.000 12 1995 2010