GZMB, granzyme B, 3002

N. diseases: 290; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		0.810 GeneticVariation BEFREE The SNP rs8192917, a non-synonymous coding SNP, was identified to be significantly associated with the disease status of vitiligo, with OR = 1.39 and P = 1.92 × 10<sup>-8</sup>. 30158536 2018
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		C 0.810 GeneticVariation GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		0.810 GeneticVariation GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		G 0.810 GeneticVariation GWASCAT Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501 2010
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		G 0.810 GeneticVariation GWASDB Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501 2010
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2273844
rs2273844
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs8192917
rs8192917
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C1847835
Disease:
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation BEFREE The SNP rs8192917, a non-synonymous coding SNP, was identified to be significantly associated with the disease status of vitiligo, with OR = 1.39 and P = 1.92 × 10<sup>-8</sup>. 30158536 2018
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Polymorphisms of GZMB gene such as Q55R, P94A, and Y247H have been shown to affect GrB activity and the subsequent cancer risk. 25313744 2015
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0699790
Disease:
Colon Carcinoma 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0007102
Disease:
Malignant tumor of colon 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs11539752
rs11539752
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Polymorphisms of GZMB gene such as Q55R, P94A, and Y247H have been shown to affect GrB activity and the subsequent cancer risk. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Polymorphisms of GZMB gene such as Q55R, P94A, and Y247H have been shown to affect GrB activity and the subsequent cancer risk. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0699790
Disease:
Colon Carcinoma 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Polymorphisms of GZMB gene such as Q55R, P94A, and Y247H have been shown to affect GrB activity and the subsequent cancer risk. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE The results revealed that the distribution of Q55R, P94A, and Y247H are not significantly different in CRC patients compared to the controls. 25313744 2015
dbSNP: rs2236338
rs2236338
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0007102
Disease:
Malignant tumor of colon 		0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744 2015
dbSNP: rs2273844
rs2273844
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0042900
Disease:
Vitiligo 		0.010 GeneticVariation BEFREE The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. 25952005 2015
dbSNP: rs2273844
rs2273844
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C1847835
Disease:
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation BEFREE The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. 25952005 2015
dbSNP: rs8192916
rs8192916
Entrez Id: 3002;107984667
Gene Symbol: GZMB;LOC107984667
GZMB;LOC107984667
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE SNP rs8192916 located in GZMB is associated with the progression of joint destruction in RA as well as with RNA expression in whole blood. 23440692 2013