Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
0.720 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
G 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913483
rs121913483
G 0.720 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019

2009

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

2007