Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.030 GeneticVariation BEFREE Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF. 24578066

2014
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.030 GeneticVariation BEFREE The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure. 14613973

2004
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.030 GeneticVariation BEFREE All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg). 10541159

1999