PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Synophrys ×
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: rs28936415
rs28936415 		0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs376754460
rs376754460 		0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0