Variant: rs1563340753

present in Gene: IKBKB present in Chromosome: 8 Position on Chromosome: 42308940 Alleles of this Variant: G/A

rs1563340753 in IKBKB gene and IMMUNODEFICIENCY 15A PMID 30337470 2018 Gain-of-function IKBKB mutation causes human combined immune deficiency.