ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
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: rs137854452
rs137854452 		1.000 0.040 7 74056680 stop gained C/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 1.000 2 1997 2000