Gene: BTK ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128621192
rs128621192
BTK
T 0.700 CausalMutation CLINVAR Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). 27512878

2016
dbSNP: rs1555980049
rs1555980049
BTK
T 0.700 GeneticVariation CLINVAR Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). 27512878

2016
dbSNP: rs1569292810
rs1569292810
BTK
A 0.700 CausalMutation CLINVAR Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. 21397315

2011
dbSNP: rs1569292810
rs1569292810
BTK
A 0.700 CausalMutation CLINVAR Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. 19904586

2010
dbSNP: rs1555980049
rs1555980049
BTK
T 0.700 GeneticVariation CLINVAR Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. 19039656

2009
dbSNP: rs1569292810
rs1569292810
BTK
A 0.700 CausalMutation CLINVAR Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. 16712653

2006
dbSNP: rs1569292021
rs1569292021
BTK
A 0.700 GeneticVariation CLINVAR Genetic analysis of patients with defects in early B-cell development. 15661032

2005
dbSNP: rs1569292810
rs1569292810
BTK
A 0.700 CausalMutation CLINVAR Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. 16160918

2005
dbSNP: rs1569296295
rs1569296295
BTK
T 0.700 GeneticVariation CLINVAR Genetic analysis of patients with defects in early B-cell development. 15661032

2005
dbSNP: rs886041148
rs886041148
BTK
AT 0.700 CausalMutation CLINVAR Bruton tyrosine kinase gene mutations in Argentina. 12655572

2003
dbSNP: rs1569296295
rs1569296295
BTK
T 0.700 GeneticVariation CLINVAR XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. 12405164

2002
dbSNP: rs1569296295
rs1569296295
BTK
T 0.700 GeneticVariation CLINVAR Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 11809909

2002
dbSNP: rs128621192
rs128621192
BTK
T 0.700 CausalMutation CLINVAR Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 11742281

2001
dbSNP: rs128621203
rs128621203
BTK
0.700 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs128621203
rs128621203
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs128621207
rs128621207
BTK
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: rs144079566
rs144079566
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs144079566
rs144079566
BTK
0.700 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs1555977339
rs1555977339
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs1555977339
rs1555977339
BTK
0.700 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs1555977474
rs1555977474
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs1555977474
rs1555977474
BTK
0.700 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs1555978277
rs1555978277
BTK
0.700 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838

2000
dbSNP: rs1555978277
rs1555978277
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000
dbSNP: rs1555980875
rs1555980875
BTK
0.700 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660

2000