Disease: Marfan Syndrome type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893811
rs104893811
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2931058
Disease:
Marfan Syndrome type 2 		0.010 GeneticVariation BEFREE By contrast, R460C, which has been found in familial TAAD but not in MFS2 or LDS, showed a less-severe dominant-negative effect and retained residual Smad phosphorylation and transcriptional activity. 21098638 2010