Variant: rs121909188 

    present in Gene: TWIST1
    present in Chromosome: 7
    Position on Chromosome: 19116946
    Alleles of this Variant: C/A

rs121909188 in TWIST1 gene and Craniosynostosis, Type 1 PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 10649491 2000 Mutations in the human TWIST gene.

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 19373776 2009 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

rs121909188 in TWIST1 gene and Saethre-Chotzen Syndrome PMID 10649491 2000 Mutations in the human TWIST gene.

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

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 19373776 2009 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.