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
G 0.800 CausalMutation CLINVAR
dbSNP: rs104894059
rs104894059
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
C 0.800 CausalMutation CLINVAR
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
T 0.800 CausalMutation CLINVAR
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
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: 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
dbSNP: rs1085307555
rs1085307555
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307555
rs1085307555
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs121909186
rs121909186
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
GT 0.700 CausalMutation CLINVAR
dbSNP: rs121909187
rs121909187
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554441989
rs1554441989
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
AGGGCAGCGTGGGGATGATCTT 0.700 CausalMutation CLINVAR
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0005745
Disease:
Blepharoptosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C1306710
Disease:
Facial asymmetry
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4021377
Disease:
Prominent crus of helix
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554442015
rs1554442015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0010278
Disease:
Craniosynostosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1563159980
rs1563159980
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
GAGGGCAGCGTGGGGATGATCT 0.700 CausalMutation CLINVAR
dbSNP: rs1563159980
rs1563159980
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
GAGGGCAGCGTGGGGATGATCT 0.700 CausalMutation CLINVAR
dbSNP: rs1563160116
rs1563160116
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1563160116
rs1563160116
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C4551902
Disease:
Craniosynostosis, Type 1
A 0.700 CausalMutation CLINVAR