Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
dbSNP: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 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: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
dbSNP: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999
dbSNP: rs1057519036
rs1057519036
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 GeneticVariation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998