Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519043
rs1057519043
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		T 0.700 GeneticVariation CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998

2018
dbSNP: rs1057519043
rs1057519043
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		T 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs1057519043
rs1057519043
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		T 0.700 GeneticVariation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs1057519043
rs1057519043
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		T 0.700 GeneticVariation CLINVAR Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378

1995