Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554441989
rs1554441989
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
AGGGCAGCGTGGGGATGATCTT 0.700 CausalMutation CLINVAR