Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909190
rs121909190
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
0.800 GeneticVariation UNIPROT Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
dbSNP: rs121909191
rs121909191
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
0.800 GeneticVariation UNIPROT Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
dbSNP: rs121909190
rs121909190
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909191
rs121909191
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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: rs1554442019
rs1554442019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
C 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs121909188
rs121909188
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
dbSNP: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431 2010
dbSNP: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
G 0.700 GeneticVariation CLINVAR Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 19483581 2009
dbSNP: rs1554442019
rs1554442019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
C 0.700 GeneticVariation CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524 2007
dbSNP: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
G 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
dbSNP: rs1554442019
rs1554442019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
C 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
dbSNP: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
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: rs1554442082
rs1554442082
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
C 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
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002