PLA2G7, phospholipase A2 group VII, 7941

N. diseases: 136; N. variants: 11
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency ×
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: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 5 1996 1998
dbSNP: rs201256712
rs201256712 		1.000 0.080 6 46709354 missense variant T/C snv 2.8E-05 3.5E-05
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 5 1996 1998
dbSNP: rs201899866
rs201899866 		1.000 0.080 6 46711495 splice donor variant C/T snv 9.6E-04 1.9E-04
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.700 0