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