Variant: rs1057519037 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121520084
    Alleles of this Variant: GC/AA;TA

rs1057519037 in FGFR2 gene and Cutis Gyrata Syndrome of Beare And Stevenson PMID 25361936 2014 Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.