rs398122831, FBN1

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.
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 1.000 15 48412639 frameshift variant TT/- del 0.700 0