Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909190
rs121909190
TWIST1
0.800 GeneticVariation UNIPROT Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269

2007
dbSNP: rs121909191
rs121909191
TWIST1
0.800 GeneticVariation UNIPROT Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269

2007
dbSNP: rs121909190
rs121909190
TWIST1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121909191
rs121909191
TWIST1
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777007
rs587777007
ERF
C 0.700 GeneticVariation CLINVAR De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 28808027

2017
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs1554441993
rs1554441993
TWIST1
TG 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: rs1554441995
rs1554441995
TWIST1
G 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: rs1554442082
rs1554442082
TWIST1
C 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs1555750816
rs1555750816
ERF
T 0.700 CausalMutation CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439

2013
dbSNP: rs587777007
rs587777007
ERF
C 0.700 GeneticVariation CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439

2013
dbSNP: rs1554442019
rs1554442019
TWIST1
C 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431

2010
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. 20184424

2010
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776

2009
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776

2009
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 19483581

2009
dbSNP: rs1554442019
rs1554442019
TWIST1
C 0.700 GeneticVariation CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524

2007
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895

2006
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895

2006
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834

2005
dbSNP: rs1554442019
rs1554442019
TWIST1
C 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834

2005