Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852677
rs137852677
0.925 0.080 2 190975830 missense variant A/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs137852679
rs137852679
0.925 0.080 2 190983699 missense variant C/A;T snv 4.0E-06
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs137852680
rs137852680
1.000 2 190991307 missense variant C/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs587777704
rs587777704
0.925 2 190976881 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs587777705
rs587777705
0.925 2 190976990 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs387906758
rs387906758
0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 9 2011 2017
dbSNP: rs387906759
rs387906759
0.851 0.080 2 190995205 missense variant G/A snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 7 2011 2016
dbSNP: rs587777630
rs587777630
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 6 2012 2017
dbSNP: rs1085307649
rs1085307649
0.882 2 190995129 missense variant G/T snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 1 2016 2016
dbSNP: rs1553496850
rs1553496850
0.882 2 190995139 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 1 2016 2016
dbSNP: rs1559011859
rs1559011859
0.882 2 190986913 missense variant T/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 0
dbSNP: rs41473544
rs41473544
1.000 2 190995209 splice acceptor variant C/T snv 2.4E-03 2.5E-03
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 0