Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918499
rs121918499
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		G 0.840 CausalMutation CLINVAR

dbSNP: rs121918499
rs121918499
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		A 0.840 CausalMutation CLINVAR

dbSNP: rs121918501
rs121918501
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		G 0.830 CausalMutation CLINVAR

dbSNP: rs121918501
rs121918501
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.830 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		A 0.820 CausalMutation CLINVAR

dbSNP: rs121918502
rs121918502
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		C 0.820 CausalMutation CLINVAR

dbSNP: rs121918496
rs121918496
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.820 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		T 0.820 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		C 0.820 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		T 0.820 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		G 0.820 CausalMutation CLINVAR

dbSNP: rs121918510
rs121918510
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		G 0.810 CausalMutation CLINVAR

dbSNP: rs121918505
rs121918505
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		G 0.810 CausalMutation CLINVAR

dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		AA 0.810 GeneticVariation CLINVAR

dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		AA 0.810 CausalMutation CLINVAR

dbSNP: rs121918497
rs121918497
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		G 0.810 CausalMutation CLINVAR

dbSNP: rs121918492
rs121918492
FGFR2
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		C 0.810 CausalMutation CLINVAR

dbSNP: rs121918492
rs121918492
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.810 CausalMutation CLINVAR

dbSNP: rs121918490
rs121918490
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.810 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		G 0.810 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.810 CausalMutation CLINVAR

dbSNP: rs121913477
rs121913477
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.810 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		A 0.800 CausalMutation CLINVAR