Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.050 GeneticVariation BEFREE The results showed that compared with CC genotype, the individuals with TT and TT + CT genotypes of rs701848 were significantly associated with increased ESCC risk (OR adjusted 1.56, 95% CI 1.07-2.27 and 1.41, 1.01-1.97). 31269493 2020
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.050 GeneticVariation BEFREE Moreover, Asian subjects carrying the TC/CC genotype or C allele of rs701848 were associated with increased risk of esophageal squamous cell cancer. 29221206 2017
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.050 GeneticVariation BEFREE Subjects with TC or CC of rs2735343 and TC or CC of rs701848 genotype have highest ESCC risk, compared to subjects with TT of rs2735343 and TT of rs701848 genotype, OR (95% CI) was 2.76 (1.37-3.45) after covariates adjustment. 26541596 2016
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.050 GeneticVariation BEFREE In summary, the polymorphisms of PTEN rs701848 T/C and rs2735343 C/G might represent crucial modifying factors for development of ESCC. 24391010 2013
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.050 GeneticVariation BEFREE To assess the contribution of polymorphisms in these three genes to the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese population, we genotyped MDM2 T309G, Del1518, PTEN rs701848, rs2735343 and P53 Arg72Pro polymorphisms using PCR-restriction fragment length polymorphism analysis in 226 ESCC cases and 226 cancer-free controls. 22336889 2012