Disease: Loeys-Dietz Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223857
rs863223857
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		G 0.700 GeneticVariation CLINVAR Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. 28182693 2017
dbSNP: rs863223857
rs863223857
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		G 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013