Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 10220140

1999

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 10220140

1999

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 10220140

1999

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398

1998

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398

1998

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398

1998

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. 9280283

1997

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. 9260159

1997

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 9016530

1997

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 9016530

1997

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. 9260159

1997

dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. 9280283

1997

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. 9260159

1997

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. 9280283

1997

dbSNP: rs128621190
rs128621190
BTK
0.810 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 9016530

1997

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 8594569

1996

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. 8834236

1996

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT 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

dbSNP: rs128620185
rs128620185
BTK
0.810 GeneticVariation UNIPROT Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia. 8723128

1996