ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933369
rs28933369
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0699791
Disease:
Stomach Carcinoma
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846 2007
dbSNP: rs28933369
rs28933369
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0699791
Disease:
Stomach Carcinoma
0.700 GeneticVariation UNIPROT Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs1058808
rs1058808
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). 31116314 2019
dbSNP: rs2643194
rs2643194
Entrez Id: 2064;93210
Gene Symbol: ERBB2;PGAP3
ERBB2;PGAP3
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). 31116314 2019
dbSNP: rs2934971
rs2934971
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE Increased risk for GC</span> was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). 31116314 2019
dbSNP: rs1801200
rs1801200
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs1801200) and H. pylori infection (per-allele OR: 0.48, 95% CI 0.23, 0.98, P = 0.04), (ii) PTGS2-1195G (rs689466) and an increased risk of GC on adjusting for H. pylori status (OR: 1.53, 95% CI 0.99, 2.37, P = 0.05), and (iii) IL1B-1473C (rs1143623) and a decreased risk of GC (OR: 0.64, 95% CI 0.41, 0.99, P = 0.05). 21649724 2011