Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570

2011
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570

2011
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. 8723101

1996