Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554442082
rs1554442082
TWIST1
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
TWIST1
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