rs137854855, LTBP2

N. diseases: 3
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.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 0.710 1.000 1 2012 2012
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
Pectus excavatum
CUI: C2051831
Disease: Pectus excavatum
1 0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012