Gene: TWIST1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894057
rs104894057
TWIST1
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894059
rs104894059
TWIST1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909189
rs121909189
TWIST1
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894054
rs104894054
TWIST1
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894058
rs104894058
TWIST1
A 0.700 CausalMutation CLINVAR

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: rs1554441989
rs1554441989
TWIST1
AGGGCAGCGTGGGGATGATCTT 0.700 CausalMutation CLINVAR

dbSNP: rs1554442015
rs1554442015
TWIST1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1563159980
rs1563159980
TWIST1
GAGGGCAGCGTGGGGATGATCT 0.700 CausalMutation CLINVAR

dbSNP: rs1563160116
rs1563160116
TWIST1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1563160337
rs1563160337
TWIST1
T 0.700 CausalMutation CLINVAR

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: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 9792856

1998
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs104894057
rs104894057
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
dbSNP: rs104894059
rs104894059
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
dbSNP: rs121909189
rs121909189
TWIST1
0.800 GeneticVariation UNIPROT Another TWIST on Baller-Gerold syndrome. 11754069

2001
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: rs1554441995
rs1554441995
TWIST1
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
TWIST1
G 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834

2005
dbSNP: rs1554442019
rs1554442019
TWIST1
C 0.700 GeneticVariation CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834

2005
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015