Source: ALL
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: rs387906761
rs387906761 		1.000 2 190995148 missense variant T/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906763
rs387906763 		1.000 2 190999647 missense variant A/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906764
rs387906764 		1.000 2 190999673 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906765
rs387906765 		1.000 2 190995143 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906766
rs387906766 		1.000 2 190999659 missense variant A/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906767
rs387906767 		1.000 2 190999674 missense variant C/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906768
rs387906768 		1.000 2 190995193 missense variant T/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs587777628
rs587777628 		1.000 2 190999630 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs587777629
rs587777629 		1.000 2 190995151 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs863223398
rs863223398 		1.000 2 190995173 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs137852678
rs137852678 		1.000 2 190978930 missense variant A/G snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.800 1.000 3 2003 2013
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: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 1 2016 2016
dbSNP: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 1.000 1 2016 2016
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: rs1553496850
rs1553496850 		0.882 2 190995139 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 1.000 1 2016 2016
dbSNP: rs1553496850
rs1553496850 		0.882 2 190995139 missense variant T/C snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 1 2016 2016
dbSNP: rs587777704
rs587777704 		0.925 2 190976881 missense variant T/C snv
CUI: C4755296
Disease: Susceptibility to viral and mycobacterial infection
Susceptibility to viral and mycobacterial infection 		0.010 1.000 1 2012 2012
dbSNP: rs587777705
rs587777705 		0.925 2 190976990 missense variant T/C snv
CUI: C4755296
Disease: Susceptibility to viral and mycobacterial infection
Susceptibility to viral and mycobacterial infection 		0.010 1.000 1 2012 2012
dbSNP: rs7565237
rs7565237 		2 190971964 intron variant C/T snv 0.22
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7597768
rs7597768 		2 190977153 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1559011859
rs1559011859 		0.882 2 190986913 missense variant T/G snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0