Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012

dbSNP: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010

dbSNP: rs104893810
rs104893810
T 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: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005