Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 10220140

1999
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398

1998
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 9016530

1997
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. 9280283

1997
dbSNP: rs128621208
rs128621208
BTK
0.800 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: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 8594569

1996
dbSNP: rs128621208
rs128621208
BTK
0.800 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: rs128621208
rs128621208
BTK
0.800 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
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. 8834236

1996
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). 7633420

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot. 7633429

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. 7711734

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia. 7897635

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia. 7627183

1995
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721

1994
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 7849697

1994
dbSNP: rs128621208
rs128621208
BTK
0.800 GeneticVariation UNIPROT An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 8013627

1994
dbSNP: rs128621208
rs128621208
BTK
T 0.800 CausalMutation CLINVAR