ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY ×
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: rs121908093
rs121908093 		0.882 0.160 1 40285988 missense variant T/C snv
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 4 2003 2010
dbSNP: rs121908095
rs121908095 		0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 4 2003 2010
dbSNP: rs281875371
rs281875371 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2003 2010
dbSNP: rs121908094
rs121908094 		0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875376
rs281875376 		1.000 0.160 1 40292590 stop gained G/A snv 4.0E-06; 4.0E-06
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0