FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
G 0.840 CausalMutation CLINVAR
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
A 0.840 CausalMutation CLINVAR
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.830 CausalMutation CLINVAR
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
C 0.830 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
T 0.820 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.820 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
T 0.820 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
C 0.820 CausalMutation CLINVAR
dbSNP: rs121918496
rs121918496
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
C 0.820 CausalMutation CLINVAR
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
C 0.820 CausalMutation CLINVAR
dbSNP: rs776587763
rs776587763
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
A 0.820 CausalMutation CLINVAR
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
C 0.810 CausalMutation CLINVAR
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
C 0.810 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
T 0.810 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
T 0.810 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.810 CausalMutation CLINVAR
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs121918492
rs121918492
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME
C 0.810 CausalMutation CLINVAR
dbSNP: rs121918492
rs121918492
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs121918497
rs121918497
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.810 CausalMutation CLINVAR
dbSNP: rs121918498
rs121918498
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
AA 0.810 GeneticVariation CLINVAR
dbSNP: rs121918498
rs121918498
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
AA 0.810 CausalMutation CLINVAR
dbSNP: rs121918505
rs121918505
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.810 CausalMutation CLINVAR
dbSNP: rs121918510
rs121918510
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
G 0.810 CausalMutation CLINVAR
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
0.800 GeneticVariation UNIPROT