Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		G 0.740 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs78311289
rs78311289
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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
CUI: C0007097
Disease: Carcinoma
Carcinoma 		G 0.710 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs1057519824
rs1057519824
MET
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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
CUI: C0007097
Disease: Carcinoma
Carcinoma 		T 0.700 GeneticVariation CLINVAR Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion. 12460923

2002
dbSNP: rs121913245
rs121913245
MET
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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
CUI: C0007097
Disease: Carcinoma
Carcinoma 		G 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs121913480
rs121913480
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		T 0.700 GeneticVariation CLINVAR Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas. 15880580

2005
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		T 0.700 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs121913484
rs121913484
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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: rs121913671
rs121913671
MET
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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
CUI: C0007097
Disease: Carcinoma
Carcinoma 		C 0.700 GeneticVariation CLINVAR Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth. 9826708

1998
dbSNP: rs28931615
rs28931615
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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: rs56391007
rs56391007
MET
CUI: C0007097
Disease: Carcinoma
Carcinoma 		T 0.700 GeneticVariation CLINVAR The radiology of osseous and articular infection. 1104268

1975
dbSNP: rs587779383
rs587779383
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		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: rs786202724
rs786202724
MET
CUI: C0007097
Disease: Carcinoma
Carcinoma 		A 0.700 GeneticVariation CLINVAR Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family. 10417759

1999