Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina. 18677443

2009
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Genetic analysis of patients with defects in early B-cell development. 15661032

2005
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Bruton tyrosine kinase gene mutations in Argentina. 12655572

2003
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. 12217331

2002
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. 11472359

2001
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721

1994
dbSNP: rs128621202
rs128621202
BTK
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		T 0.700 CausalMutation CLINVAR Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 7880320

1994