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: rs1085307555
rs1085307555
TWIST1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Mutations in the human TWIST gene. 10649491

2000
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: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
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: 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 A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358

2003
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 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 Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166

1997
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: 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 Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834

2005
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 A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
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: 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: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
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