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: rs1261178797
rs1261178797
1 1.000 20 32434812 stop gained T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs397507548
rs397507548
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010