Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894057
rs104894057
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
dbSNP: rs104894057
rs104894057
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894057
rs104894057
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069 2001
dbSNP: rs104894057
rs104894057
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997
dbSNP: rs104894059
rs104894059
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894059
rs104894059
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997
dbSNP: rs104894059
rs104894059
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069 2001
dbSNP: rs104894059
rs104894059
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
dbSNP: rs121909189
rs121909189
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069 2001
dbSNP: rs121909189
rs121909189
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997
dbSNP: rs121909189
rs121909189
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167 1997
dbSNP: rs121909189
rs121909189
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		G 0.800 CausalMutation 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: rs1554442016
rs1554442016
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4540299
Disease:
SWEENEY-COX SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1554442016
rs1554442016
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4540299
Disease:
SWEENEY-COX SYNDROME 		0.800 GeneticVariation UNIPROT 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: rs1554442016
rs1554442016
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4540299
Disease:
SWEENEY-COX SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894054
rs104894054
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs104894054
rs104894054
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		0.710 GeneticVariation BEFREE We previously showed that Twist haploinsufficiency caused by a Y103X nonsense mutation in SCS alters both proliferation and osteoblast gene expression in human calvarial osteoblasts, indicating that Twist is an important regulator of osteoblast differentiation. 11854168 2002
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: rs104894055
rs104894055
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C1863370
Disease:
Saethre-Chotzen Syndrome with Eyelid Anomalies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894058
rs104894058
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894065
rs104894065
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C1867146
Disease:
Robinow Sorauf syndrome 		A 0.700 CausalMutation CLINVAR