Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.030 GeneticVariation BEFREE Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 20156508

2010
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.030 GeneticVariation BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846

2009
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.030 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087

2005