rs351855, FGFR4

N. diseases: 58
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CANCER PROGRESSION AND TUMOR CELL MOTILITY
0.700 CausalMutation CLINVAR
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE G388R mutation of the FGFR4 gene is not relevant for breast cancer prognosis. 14710228 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE G388R mutation of the FGFR4 gene is not relevant for breast cancer prognosis. 14710228 2004
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.780 GeneticVariation BEFREE Gly-388Arg polymorphism of FGFR-4 most likely contributes to susceptibility to prostate cancer, especially in men of European descent. 21625079 2011
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.080 GeneticVariation BEFREE Gly-388Arg polymorphism of FGFR-4 most likely contributes to susceptibility to prostate cancer, especially in men of European descent. 21625079 2011
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE A gly(388)arg polymorphism (rs351855) in the transmembrane domain of the fibroblast growth factor receptor (FGFR4) is associated with increased risk, staging, and metastasis in several different types of cancer. 22971346 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE A gly(388)arg polymorphism (rs351855) in the transmembrane domain of the fibroblast growth factor receptor (FGFR4) is associated with increased risk, staging, and metastasis in several different types of cancer. 22971346 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE A gly(388)arg polymorphism (rs351855) in the transmembrane domain of the fibroblast growth factor receptor (FGFR4) is associated with increased risk, staging, and metastasis in several different types of cancer. 22971346 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.010 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.010 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Sarcoma of soft tissue
CUI: C4551687
Disease: Sarcoma of soft tissue
0.010 GeneticVariation BEFREE A common single nucleotide polymorphism (SNP) Gly388Arg variant has been associated with increased tumor cell motility and progression of breast cancer, head and neck cancer and soft tissue sarcomas. 23226373 2012
Node-positive breast cancer
CUI: C3160887
Disease: Node-positive breast cancer
0.020 GeneticVariation BEFREE A recent study presented first evidence that a single nucleotide polymorphism (SNP) at codon 388 of fibroblast growth factor receptor 4 (FGFR4) gene, causing a transmembrane domain missense mutation (Gly388Arg), is associated with disease outcome in node-positive breast cancer. 16822847 2006
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.780 GeneticVariation UNIPROT Altered fibroblast growth factor receptor 4 stability promotes prostate cancer progression. 18670643 2008
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE Although we observed no correlation between the FGFR4 Gly388Arg polymorphism and clinicopathological parameters or survival in the total cohort of GC patients, the presence of the Arg388 allele was associated with shorter survival time in patients with GC if the tumor was small (log rank χ(2) = 5.449, P = 0.020), well differentiated (log rank χ(2) = 12.798, P = 0.000), T1 or T2 stage (log rank χ(2) = 4.745, P = 0.029), without lymph node involvement (log rank χ(2) = 6.647, P= 0.010), and at an early clinical stage (log rank χ(2) = 4.615, P = 0.032). 23901234 2013
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE Although we observed no correlation between the FGFR4 Gly388Arg polymorphism and clinicopathological parameters or survival in the total cohort of GC patients, the presence of the Arg388 allele was associated with shorter survival time in patients with GC if the tumor was small (log rank χ(2) = 5.449, P = 0.020), well differentiated (log rank χ(2) = 12.798, P = 0.000), T1 or T2 stage (log rank χ(2) = 4.745, P = 0.029), without lymph node involvement (log rank χ(2) = 6.647, P= 0.010), and at an early clinical stage (log rank χ(2) = 4.615, P = 0.032). 23901234 2013
Node-positive breast cancer
CUI: C3160887
Disease: Node-positive breast cancer
0.020 GeneticVariation BEFREE Analyses of the disease characteristics showed that SNP rs351855 was associated with lymph-node-positive breast cancer with a dose-dependent effect of the minor allele (P = 0.008). 26431494 2015
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE Associations between FGFR4 Gly388Arg polymorphism and overall survival exist in patients with gastric cancer (P = 0.046).The FGFR4 Arg allele (hazard risk (HR), 2.324; 95% confidence interval (CI), 1.054-4.125; P = 0.037) and TNM stage (HR, 5.516; 95% CI 3.658-7.409; P = 0.005) were independent prognostic factors in patients with gastric cancer. 20844967 2010
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE Associations between FGFR4 Gly388Arg polymorphism and overall survival exist in patients with gastric cancer (P = 0.046).The FGFR4 Arg allele (hazard risk (HR), 2.324; 95% confidence interval (CI), 1.054-4.125; P = 0.037) and TNM stage (HR, 5.516; 95% CI 3.658-7.409; P = 0.005) were independent prognostic factors in patients with gastric cancer. 20844967 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Clinical investigations of an FGFR4 germline polymorphism, resulting in substitution of glycine by arginine at codon 388 (G388 to R388), have shown a correlation between FGFR4 R388 and aggressive disease progression in cancer patients. 16109476 2006
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Clinical investigations of an FGFR4 germline polymorphism, resulting in substitution of glycine by arginine at codon 388 (G388 to R388), have shown a correlation between FGFR4 R388 and aggressive disease progression in cancer patients. 16109476 2006
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017