SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: Loeys-Dietz Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730880215
rs730880215 		1.000 0.120 15 67181453 stop gained G/A;T snv 4.1E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0