rs281875371, ZMPSTE24

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.
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
8 0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05 0.700 1.000 4 2003 2010
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
16 0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05 0.010 1.000 1 2006 2006