Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2011
dbSNP: rs374608214
rs374608214
FGFR2
0.040 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2011
dbSNP: rs121909627
rs121909627
FGFR1
0.030 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2011
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. 18818193

2009
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. 19215249

2009
dbSNP: rs1318358361
rs1318358361
ARID1B
0.040 GeneticVariation BEFREE The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. 19215249

2009
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. 27683237

2017
dbSNP: rs374608214
rs374608214
FGFR2
0.040 GeneticVariation BEFREE We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. 27683237

2017
dbSNP: rs121909627
rs121909627
FGFR1
0.030 GeneticVariation BEFREE We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. 27683237

2017