Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553630457
rs1553630457
TGFBR2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		C 0.700 CausalMutation CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185

2017