Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10225279
rs10225279
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0002170
Disease:
Alopecia 		T 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs73071393
rs73071393
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0002170
Disease:
Alopecia 		G 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0005745
Disease:
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1331959399
rs1331959399
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome 		0.010 GeneticVariation BEFREE This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). 20868477 2010
dbSNP: rs1554442016
rs1554442016
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations. 28369379 2017
dbSNP: rs774600019
rs774600019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C1744559
Disease:
Congenital ectodermal dysplasia of face 		0.010 GeneticVariation BEFREE Recently, we have reported that two nonsense mutations (c.486C>T [Q119X] and c.324C>T [Q65X]) of the basic helix-loop-helix (bHLH) transcription factor TWIST2 cause Setleis Syndrome. 21801849 2011
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0010278
Disease:
Craniosynostosis 		C 0.700 GeneticVariation CLINVAR
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: 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 		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 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1085307555
rs1085307555
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121909188
rs121909188
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR Mutations in the human TWIST gene. 10649491 2000
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: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
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: 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 A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
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: 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: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
dbSNP: rs1554441991
rs1554441991
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997
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: 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