rs1554442082, TWIST1

N. diseases: 2
Disease: Craniosynostosis, Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
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