Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs879253718
rs879253718
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs562297920
rs562297920
FGFR2
0.010 GeneticVariation BEFREE In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. 26289989

2015
dbSNP: rs974173968
rs974173968
FGFR2
0.010 GeneticVariation BEFREE In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. 26289989

2015
dbSNP: rs121918497
rs121918497
FGFR2
0.010 GeneticVariation BEFREE Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. 16526917

2006