rs121913483, FGFR3

N. diseases: 22
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
0.820 CausalMutation CLINVAR
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.720 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019 2009
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Papillary renal cell carcinoma, sporadic
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676 2015
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790 2009
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. 11879084 2002
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. 11038465 2000
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 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 1995
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.700 CausalMutation CLINVAR
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.700 CausalMutation CLINVAR
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
0.700 CausalMutation CLINVAR
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.700 CausalMutation CLINVAR
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
0.700 CausalMutation CLINVAR
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
0.700 CausalMutation CLINVAR
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.700 CausalMutation CLINVAR
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.700 CausalMutation CLINVAR