FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Antley-Bixler Syndrome, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519044
rs1057519044
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1434545235
rs1434545235
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554927408
rs1554927408
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR