Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		0.840 GeneticVariation UNIPROT

dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 10360402

1999
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061

1998
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257

1998
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844

1996
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein. 7773297

1995
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.830 GeneticVariation UNIPROT 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
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.800 GeneticVariation UNIPROT Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 15772091

2005
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999