Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72553885
rs72553885
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

dbSNP: rs1898830
rs1898830
0.010 GeneticVariation BEFREE African-American women with PID carrying the AA genotype for TLR2 SNP rs1898830 had a threefold increased rate of BV/intermediate flora (OR 2.9, 95% CI 1.2 to 7.3). 24848367

2014

dbSNP: rs1927911
rs1927911
0.010 GeneticVariation BEFREE Women with PID who carried the TLR4 rs1927911 CC genotype had significantly increased odds of C. trachomatis (OR, 3.7; 95% CI, 1.6-8.8; P = .002). 22238472

2012