Gene: TWIST1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894054
rs104894054
TWIST1
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894054
rs104894054
TWIST1
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: rs104894055
rs104894055
TWIST1
0.010 GeneticVariation BEFREE Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. 11977182

2002
dbSNP: rs104894057
rs104894057
TWIST1
0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs104894057
rs104894057
TWIST1
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894057
rs104894057
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
dbSNP: rs104894057
rs104894057
TWIST1
0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166

1997
dbSNP: rs104894058
rs104894058
TWIST1
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894059
rs104894059
TWIST1
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894059
rs104894059
TWIST1
0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166

1997
dbSNP: rs104894059
rs104894059
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
dbSNP: rs104894059
rs104894059
TWIST1
0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs1085307555
rs1085307555
TWIST1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909186
rs121909186
TWIST1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs121909187
rs121909187
TWIST1
T 0.700 CausalMutation CLINVAR

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 in the human TWIST gene. 10649491

2000
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010
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 Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs121909189
rs121909189
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
dbSNP: rs121909189
rs121909189
TWIST1
0.800 GeneticVariation UNIPROT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166

1997
dbSNP: rs121909189
rs121909189
TWIST1
0.800 GeneticVariation UNIPROT Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs121909189
rs121909189
TWIST1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1554441989
rs1554441989
TWIST1
AGGGCAGCGTGGGGATGATCTT 0.700 CausalMutation CLINVAR