rs121908093, ZMPSTE24

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.
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
8 0.882 0.160 1 40285988 missense variant T/C snv 0.800 1.000 4 2003 2010
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.882 0.160 1 40285988 missense variant T/C snv 0.010 1.000 1 2003 2003
Generalized Lipodystrophy
CUI: C4317112
Disease: Generalized Lipodystrophy
5 0.882 0.160 1 40285988 missense variant T/C snv 0.010 1.000 1 2003 2003