rs121908095, 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 0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05 0.800 1.000 4 2003 2010
Atrophic condition of skin
CUI: C0151514
Disease: Atrophic condition of skin
4 0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2008 2008
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
16 0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2008 2008