NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 ×
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: rs773694113
rs773694113 		1.000 4 102582929 frameshift variant -/T delins 4.0E-06; 4.0E-06
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 1.000 1 2018 2018
dbSNP: rs1560679469
rs1560679469 		1.000 4 102567039 frameshift variant -/A delins
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs1560711146
rs1560711146 		1.000 4 102601010 splice donor variant G/A snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320688
rs869320688 		1.000 4 102579043 splice region variant A/G snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320689
rs869320689 		1.000 4 102580641 splice donor variant T/G snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320754
rs869320754 		1.000 4 102576931 frameshift variant -/A delins
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0