Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs128620189
rs128620189
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 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: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. 8834236

1996
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation BEFREE In this paper, we report that the PH domain of Btk functions as an inositol 1,3,4,5-tetrakisphosphate (IP4), inositol 1,3,4,5,6-pentakisphosphate, and inositol 1,2,3,4,5,6-hexakisphosphate (IP6) binding domain (Kd of approximately 40 nM for IP4), and that all of the XLA (Phe replaced by Ser at position 25 (F25S), R28H, T33P, V64F, and V113D) and Xid mutations (R28C) found in the PH domain result in a dramatic reduction of IP4 binding activity. 8939985

1996
dbSNP: rs128620189
rs128620189
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: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 8594569

1996
dbSNP: rs128620189
rs128620189
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
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia. 7627183

1995
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot. 7633429

1995
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). 7633420

1995
dbSNP: rs128620189
rs128620189
BTK
0.810 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: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006

1995
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. 7711734

1995
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 7849697

1994
dbSNP: rs128620189
rs128620189
BTK
0.810 GeneticVariation UNIPROT Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721

1994
dbSNP: rs128620189
rs128620189
BTK
0.810 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: rs128620189
rs128620189
BTK
G 0.810 CausalMutation CLINVAR