Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223829
rs863223829
TGFBR1
G 0.700 CausalMutation CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172

2015
dbSNP: rs863223829
rs863223829
TGFBR1
G 0.700 CausalMutation CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634

2011
dbSNP: rs863223829
rs863223829
TGFBR1
G 0.700 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618

2008
dbSNP: rs863223829
rs863223829
TGFBR1
G 0.700 CausalMutation CLINVAR Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. 18703712

2008