PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Hypertensive disease ×
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: rs141498002
rs141498002 		0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0