PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Hydrops Fetalis, Non-Immune ×
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: rs190521996
rs190521996 		0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs80338701
rs80338701 		0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0