Disease: Saethre-Chotzen Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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