Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452

2019
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs121913483
rs121913483
FGFR3
G 0.820 CausalMutation CLINVAR