FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Lacrimoauriculodentodigital syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913112
rs121913112
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121913112
rs121913112
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1453271838
rs1453271838
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		0.710 GeneticVariation BEFREE The heterozygous FGFR3 c.1882 G > A variant results in substitution of aspartic acid with asparagine at amino acid 628 (p.D628N) and co-segregated with the phenotype in the LADD family. 28483234 2017
dbSNP: rs1453271838
rs1453271838
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121913116
rs121913116
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		T 0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome 		G 0.700 CausalMutation CLINVAR