Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555980049
rs1555980049
BTK
T 0.700 GeneticVariation CLINVAR Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). 27512878

2016
dbSNP: rs1555980049
rs1555980049
BTK
T 0.700 GeneticVariation CLINVAR Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. 19039656

2009
dbSNP: rs1555980049
rs1555980049
BTK
T 0.700 GeneticVariation CLINVAR Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. 8695804

1996