Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057523647
rs1057523647
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4
A 0.700 CausalMutation CLINVAR