Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72553885
rs72553885
TNFRSF13B
0.010 GeneticVariation BEFREE Our patient incompletely met ESID diagnostic criteria for CVID, but molecular genetic analysis, a NGS panel including 47 PID-associated genes was performed in the proband and in his parents, revealing the presence of a heterozygous nucleotide substitution in exon 4 (c.579C>A) of <i>TNFRSF13B</i> encoding TACI. 31681716

2019