ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: Mandibuloacral dysostosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908094
rs121908094 		0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908095
rs121908095 		0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs281875371
rs281875371 		0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2006 2006