Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: rs121909188
rs121909188
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: 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: C0175699
Disease:
Saethre-Chotzen Syndrome 		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
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: rs1554442082
rs1554442082
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: rs430
rs430
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0162701
Disease:
Polysomnography 		A 0.700 GeneticVariation GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
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: rs1554442019
rs1554442019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: C0175699
Disease:
Saethre-Chotzen Syndrome 		A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
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: C0175699
Disease:
Saethre-Chotzen Syndrome 		GGGCAGCGTGGGGATGATCTTC 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: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: 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: rs121909188
rs121909188
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		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: rs1554441995
rs1554441995
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.700 GeneticVariation CLINVAR Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 19483581 2009