Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128621207
rs128621207
BTK
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		T 0.700 GeneticVariation CLINVAR BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. 11102984

2000
dbSNP: rs128621207
rs128621207
BTK
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		T 0.700 GeneticVariation CLINVAR Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398

1998
dbSNP: rs128621207
rs128621207
BTK
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		T 0.700 GeneticVariation CLINVAR Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 7849697

1994
dbSNP: rs128621207
rs128621207
BTK
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		T 0.700 CausalMutation CLINVAR