MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2295080
rs2295080
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Here, we discovered, for the first time, that rs2295079 (-78C/G) and rs2295080 (-141G/T) formed linkage haplotypes, with Ht1 (-78C/-141G) and Ht2 (-78G/-141T) being dominant, which were associated with distinct susceptibility to breast cancer, response to paclitaxel, and clinical outcomes in breast cancer. 31467112 2019
dbSNP: rs2295080
rs2295080
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE In parallel, the significant effects were observed between mTOR rs2295080 polymorphism and breast cancer risk in the allele, codominant, and recessive models (P < 0.05). 27533457 2016
dbSNP: rs2295079
rs2295079
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Here, we discovered, for the first time, that rs2295079 (-78C/G) and rs2295080 (-141G/T) formed linkage haplotypes, with Ht1 (-78C/-141G) and Ht2 (-78G/-141T) being dominant, which were associated with distinct susceptibility to breast cancer, response to paclitaxel, and clinical outcomes in breast cancer. 31467112 2019
dbSNP: rs12125777
rs12125777
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In EA women, variants in FRAP1 rs12125777 (intron), PRR5L rs3740958 (synonymous coding), and CDKAL1 rs9368197 (intron) were associated with increased breast cancer risk, while variants in RPTOR rs9900506 (intron) were associated with decreased risk (nominal p-trend for functional and FRAP1 SNPs or p adjusted for correlated test [p ACT] < 0.05). 27314662 2016
dbSNP: rs2536
rs2536
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We detected no significant correlations between rs2536 polymorphism and the clinical parameters of breast cancer patients, while rs2295080 polymorphism was associated with lymph node (LN) metastasis. 27533457 2016