rs137854456, FBN1

N. diseases: 2
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 0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05 0.700 1.000 20 1993 2013
MARFAN SYNDROME, SEVERE CLASSIC
CUI: C4016052
Disease: MARFAN SYNDROME, SEVERE CLASSIC
1 0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05 0.700 0