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: rs1554442082
rs1554442082
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		C 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: rs1554442082
rs1554442082
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome 		C 0.700 CausalMutation CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358 2003