Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
0.810 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

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

2007

dbSNP: rs121913483
rs121913483
0.810 CausalMutation CLINVAR Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 15772091

2005

dbSNP: rs121913483
rs121913483
0.810 CausalMutation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999

dbSNP: rs121913483
rs121913483
0.810 CausalMutation CLINVAR Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699

1996

dbSNP: rs121913483
rs121913483
0.810 GeneticVariation UNIPROT

dbSNP: rs78311289
rs78311289
0.800 CausalMutation CLINVAR Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903

2008

dbSNP: rs78311289
rs78311289
0.800 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2007

dbSNP: rs78311289
rs78311289
0.800 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2001

dbSNP: rs78311289
rs78311289
0.800 CausalMutation CLINVAR Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001

dbSNP: rs121913530
rs121913530
0.800 CausalMutation CLINVAR Malignant activation of a K-ras oncogene in lung carcinoma but not in normal tissue of the same patient. 6695174

1984

dbSNP: rs121913530
rs121913530
0.800 GeneticVariation UNIPROT

dbSNP: rs78311289
rs78311289
0.800 GeneticVariation UNIPROT

dbSNP: rs104894230
rs104894230
0.700 CausalMutation CLINVAR

dbSNP: rs118203419
rs118203419
0.700 GeneticVariation CLINVAR

dbSNP: rs118203423
rs118203423
0.700 GeneticVariation CLINVAR

dbSNP: rs118203542
rs118203542
0.700 GeneticVariation CLINVAR

dbSNP: rs118203549
rs118203549
0.700 GeneticVariation CLINVAR

dbSNP: rs118203631
rs118203631
0.700 GeneticVariation CLINVAR

dbSNP: rs121913479
rs121913479
0.700 GeneticVariation UNIPROT

dbSNP: rs121913482
rs121913482
0.700 GeneticVariation UNIPROT

dbSNP: rs28897728
rs28897728
0.700 GeneticVariation UNIPROT

dbSNP: rs2228000
rs2228000
XPC
0.070 GeneticVariation BEFREE Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val and PAT-/+) of Xeroderma pigmentosum group C (XPC) gene and bladder cancer susceptibility; however, the findings are inconclusive. 23918308

2014

dbSNP: rs2228000
rs2228000
XPC
0.070 GeneticVariation BEFREE The aim of this meta-analysis is to generate large-scale evidence to determine the degree to which common Cyclin D1 (CCND1) G870A (dbSNP: rs603965) and xeroderma pigmentosum group C (XPC) Ala499Val (dbSNP: rs2228000) polymorphisms are associated with susceptibility to bladder cancer. 24264314

2014

dbSNP: rs2228001
rs2228001
XPC
0.070 GeneticVariation BEFREE Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val and PAT-/+) of Xeroderma pigmentosum group C (XPC) gene and bladder cancer susceptibility; however, the findings are inconclusive. 23918308

2014