Disease: IMMUNODEFICIENCY 31B ×
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: 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: rs587776870
rs587776870 		1.000 2 190998247 missense variant C/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.800 0
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 9 2011 2017
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 7 2011 2016
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 6 2012 2017
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 2 2016 2018
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: 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: rs1559011859
rs1559011859 		0.882 2 190986913 missense variant T/G snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0
dbSNP: rs587776713
rs587776713 		1.000 2 190978968 frameshift variant TC/- delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0
dbSNP: rs587776714
rs587776714 		1.000 2 190976971 frameshift variant -/T delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0