Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.700 1.000 4 2003 2010
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.010 1.000 1 2006 2006