rs397516433, ELN

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Supravalvular aortic stenosis
CUI: C0003499
Disease: Supravalvular aortic stenosis
38 1.000 0.040 7 74051747 splice region variant C/G;T snv 1.2E-05 0.700 1.000 3 1997 2007