Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79184941
rs79184941
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation BEFREE Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973

2001
dbSNP: rs79184941
rs79184941
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.800 CausalMutation CLINVAR Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 11121055

2000
dbSNP: rs79184941
rs79184941
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation BEFREE Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. 8651276

1996
dbSNP: rs79184941
rs79184941
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation BEFREE We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995
dbSNP: rs79184941
rs79184941
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.800 CausalMutation CLINVAR We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995