Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
0.740 GeneticVariation BEFREE Using single strand conformation polymorphism (SSCP) followed by DNA sequencing, we found FGFR3 mutation (S249C in all cases) in 5% of invasive cervical carcinomas and no mutation in intraepithelial lesions. 15869706

2005
dbSNP: rs121913483
rs121913483
FGFR3
0.740 GeneticVariation BEFREE This study confirms the low frequency of the FGFR3 S249C mutation in CC. 11605053

2001
dbSNP: rs121913483
rs121913483
FGFR3
0.740 GeneticVariation BEFREE Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas. 11904459

2001
dbSNP: rs121913483
rs121913483
FGFR3
0.740 GeneticVariation BEFREE The S249C mutation is the only FGFR3 mutation described to date in cervical carcinomas. 11114733

2000
dbSNP: rs121913483
rs121913483
FGFR3
G 0.740 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs78311289
rs78311289
FGFR3
G 0.710 GeneticVariation CLINVAR Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. 11429702

2001
dbSNP: rs78311289
rs78311289
FGFR3
0.710 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000
dbSNP: rs78311289
rs78311289
FGFR3
G 0.710 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs28931615
rs28931615
FGFR3
A 0.700 GeneticVariation CLINVAR The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues. 19165726

2009
dbSNP: rs121913480
rs121913480
FGFR3
T 0.700 GeneticVariation CLINVAR Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas. 15880580

2005
dbSNP: rs1057519824
rs1057519824
MET
G 0.700 GeneticVariation CLINVAR Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion. 12460923

2002
dbSNP: rs1057520030
rs1057520030
MET
T 0.700 GeneticVariation CLINVAR Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion. 12460923

2002
dbSNP: rs121913484
rs121913484
FGFR3
T 0.700 GeneticVariation CLINVAR Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. 12009017

2002
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 GeneticVariation CLINVAR Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. 11429702

2001
dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs786202724
rs786202724
MET
A 0.700 GeneticVariation CLINVAR Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family. 10417759

1999
dbSNP: rs121913245
rs121913245
MET
C 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs121913246
rs121913246
MET
G 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs121913671
rs121913671
MET
A 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs121913671
rs121913671
MET
C 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs587779383
rs587779383
FGFR3
T 0.700 GeneticVariation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065

1998
dbSNP: rs56391007
rs56391007
MET
T 0.700 GeneticVariation CLINVAR The radiology of osseous and articular infection. 1104268

1975
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative. 30575961

2019
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019
dbSNP: rs121913377
rs121913377
BRAF
0.100 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019