BIRC5, baculoviral IAP repeat containing 5, 332

N. diseases: 199; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0006826
Disease:
Malignant Neoplasms
0.080 GeneticVariation BEFREE A growing body of evidence has shown the possible relevance of survivin -31G>C (rs9904341) promoter polymorphism to the genetic susceptibility of cancer. 24077840 2014
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.080 GeneticVariation BEFREE A growing body of evidence has shown the possible relevance of survivin -31G>C (rs9904341) promoter polymorphism to the genetic susceptibility of cancer. 24077840 2014
dbSNP: rs3764383
rs3764383
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE After adjusting for age, gender, smoking status, histology, stage, surgical operation, and chemotherapy or radiotherapy status, Cox hazard proportional model suggested that four single nucleotide polymorphisms had statistically significant impacts on NSCLC survival (rs3764383, AG/GG versus AA, hazard ratio [HR] = 0.78, 95% confidence interval [CI]: 0.62-0.99; rs8073069, GG versus CG/CC, HR = 1.76, 95% CI: 1.16-2.67; rs4789551, GG versus AG/AA, HR = 2.04, 95% CI: 1.08-3.86; rs1042489, GG versus AG/AA, HR = 1.37, 95% CI: 1.03-1.83). 20881643 2010
dbSNP: rs1042489
rs1042489
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE After adjusting for age, gender, smoking status, histology, stage, surgical operation, and chemotherapy or radiotherapy status, Cox hazard proportional model suggested that four single nucleotide polymorphisms had statistically significant impacts on NSCLC survival (rs3764383, AG/GG versus AA, hazard ratio [HR] = 0.78, 95% confidence interval [CI]: 0.62-0.99; rs8073069, GG versus CG/CC, HR = 1.76, 95% CI: 1.16-2.67; rs4789551, GG versus AG/AA, HR = 2.04, 95% CI: 1.08-3.86; rs1042489, GG versus AG/AA, HR = 1.37, 95% CI: 1.03-1.83). 20881643 2010
dbSNP: rs4789551
rs4789551
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE After adjusting for age, gender, smoking status, histology, stage, surgical operation, and chemotherapy or radiotherapy status, Cox hazard proportional model suggested that four single nucleotide polymorphisms had statistically significant impacts on NSCLC survival (rs3764383, AG/GG versus AA, hazard ratio [HR] = 0.78, 95% confidence interval [CI]: 0.62-0.99; rs8073069, GG versus CG/CC, HR = 1.76, 95% CI: 1.16-2.67; rs4789551, GG versus AG/AA, HR = 2.04, 95% CI: 1.08-3.86; rs1042489, GG versus AG/AA, HR = 1.37, 95% CI: 1.03-1.83). 20881643 2010
dbSNP: rs8073069
rs8073069
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Among 185 stage III to IV patients who received only chemotherapy, only the potentially functional rs8073069 still had a significantly increased risk on the prognosis of NSCLC (GG versus CG/CC, HR = 2.06, 95% CI: 1.10-3.87). 20881643 2010
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0006826
Disease:
Malignant Neoplasms
0.080 GeneticVariation BEFREE An upgrade risk in rs9904341 of BIRC5 were revealed to be associated with urinary cancer in allele contrast model (OR = 1.222, P = 0.012), homozygote contrast model (OR = 1.579, P = 0.0001) and recessive contrast model (OR = 1.433, P < 0.001), as well as rs2071214 polymorphism in the subgroup analysis of BCa in allele contrast model (OR = 1.362, P = 0.011) and recessive contrast model (OR = 1.417, P = 0.015). 31809840 2020
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.080 GeneticVariation BEFREE An upgrade risk in rs9904341 of BIRC5 were revealed to be associated with urinary cancer in allele contrast model (OR = 1.222, P = 0.012), homozygote contrast model (OR = 1.579, P = 0.0001) and recessive contrast model (OR = 1.433, P < 0.001), as well as rs2071214 polymorphism in the subgroup analysis of BCa in allele contrast model (OR = 1.362, P = 0.011) and recessive contrast model (OR = 1.417, P = 0.015). 31809840 2020
dbSNP: rs2071214
rs2071214
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE An upgrade risk in rs9904341 of BIRC5 were revealed to be associated with urinary cancer in allele contrast model (OR = 1.222, P = 0.012), homozygote contrast model (OR = 1.579, P = 0.0001) and recessive contrast model (OR = 1.433, P < 0.001), as well as rs2071214 polymorphism in the subgroup analysis of BCa in allele contrast model (OR = 1.362, P = 0.011) and recessive contrast model (OR = 1.417, P = 0.015). 31809840 2020
dbSNP: rs2071214
rs2071214
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE An upgrade risk in rs9904341 of BIRC5 were revealed to be associated with urinary cancer in allele contrast model (OR = 1.222, P = 0.012), homozygote contrast model (OR = 1.579, P = 0.0001) and recessive contrast model (OR = 1.433, P < 0.001), as well as rs2071214 polymorphism in the subgroup analysis of BCa in allele contrast model (OR = 1.362, P = 0.011) and recessive contrast model (OR = 1.417, P = 0.015). 31809840 2020
dbSNP: rs17878467
rs17878467
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE As for rs17878467, the T allele might be a protective factor for tumor, especially in Asians. 24098667 2013
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE Association between rs9904341 G<C gene polymorphism and susceptibility to pancreatic cancer in a Chinese population. 26125713 2015
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE Association between rs9904341 G<C gene polymorphism and susceptibility to pancreatic cancer in a Chinese population. 26125713 2015
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.080 GeneticVariation BEFREE Emerging evidence showed that common functional -31G>C polymorphism (rs9904341 G>C) in the promoter region of the survivin gene is involved in the regulation of survivin expression, thus increasing an individual's susceptibility to gastrointestinal tract (GIT) cancer; but individually published results are inconclusive. 23405077 2013
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0006826
Disease:
Malignant Neoplasms
0.080 GeneticVariation BEFREE Emerging evidence showed that common functional -31G>C polymorphism (rs9904341 G>C) in the promoter region of the survivin gene is involved in the regulation of survivin expression, thus increasing an individual's susceptibility to gastrointestinal tract (GIT) cancer; but individually published results are inconclusive. 23405077 2013
dbSNP: rs2239680
rs2239680
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE First, we genotyped seven SNPs in a Chinese Han population with 600 lung cancer patients and 600 matched healthy controls and found that compared with the TT genotype of rs2239680 in 3' UTR of baculoviral IAP repeat containing 5 (BIRC5), C allele was associated with a significantly increased risk of lung cancer and advanced pathologic stage, with the odds ratio for participants carrying the CT or CC genotype being 1.50 [95% confidence interval (CI) 1.20-1.89, P<0.01] and 2.29 (95% CI 1.64-3.18, P<0.01), respectively. 23232114 2013
dbSNP: rs2239680
rs2239680
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE First, we genotyped seven SNPs in a Chinese Han population with 600 lung cancer patients and 600 matched healthy controls and found that compared with the TT genotype of rs2239680 in 3' UTR of baculoviral IAP repeat containing 5 (BIRC5), C allele was associated with a significantly increased risk of lung cancer and advanced pathologic stage, with the odds ratio for participants carrying the CT or CC genotype being 1.50 [95% confidence interval (CI) 1.20-1.89, P<0.01] and 2.29 (95% CI 1.64-3.18, P<0.01), respectively. 23232114 2013
dbSNP: rs2239680
rs2239680
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE First, we genotyped seven SNPs in a Chinese Han population with 600 lung cancer patients and 600 matched healthy controls and found that compared with the TT genotype of rs2239680 in 3' UTR of baculoviral IAP repeat containing 5 (BIRC5), C allele was associated with a significantly increased risk of lung cancer and advanced pathologic stage, with the odds ratio for participants carrying the CT or CC genotype being 1.50 [95% confidence interval (CI) 1.20-1.89, P<0.01] and 2.29 (95% CI 1.64-3.18, P<0.01), respectively. 23232114 2013
dbSNP: rs8073903
rs8073903
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Furthermore, in a case-control study examining single nucleotide polymorphisms (SNPs) in the BIRC5 regulatory regions, the minor alleles of rs8073903 and rs8073069 were found to be significantly associated with asthma and especially non-allergic asthma phenotypes, which associations were more prominent among women. 22336533 2012
dbSNP: rs8073069
rs8073069
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Furthermore, in a case-control study examining single nucleotide polymorphisms (SNPs) in the BIRC5 regulatory regions, the minor alleles of rs8073903 and rs8073069 were found to be significantly associated with asthma and especially non-allergic asthma phenotypes, which associations were more prominent among women. 22336533 2012
dbSNP: rs17879146
rs17879146
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0031099
Disease:
Periodontitis
T 0.700 GeneticVariation GWASCAT Genome-wide association study of chronic periodontitis in a general German population. 24024966 2013
dbSNP: rs17879146
rs17879146
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0600298
Disease:
Periodontosis
T 0.700 GeneticVariation GWASCAT Genome-wide association study of chronic periodontitis in a general German population. 24024966 2013
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0085669
Disease:
Acute leukemia
0.010 GeneticVariation BEFREE In conclusion, the SNP of rs9904341C/G in survivin may be correlated with the risk of acute leukemia, and compared with C/C genotype, patients with C/G or G/G may have a decreased risk of acute leukemia. 29456699 2018
dbSNP: rs9904341
rs9904341
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE In conclusion, we found that the survivin rs9904341 polymorphism was associated with an increased risk of acute pancreatitis. 26125713 2015
dbSNP: rs8073069
rs8073069
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
CUI: C0085669
Disease:
Acute leukemia
0.010 GeneticVariation BEFREE In survivin, rs8073069C/G may have no correlation with the risk of acute leukemia. 29456699 2018