PLA2G5, phospholipase A2 group V, 5322

N. diseases: 29; N. variants: 15
Disease: Fleck Retina, Familial Benign ×
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: rs387906795
rs387906795 		1.000 0.080 1 20086175 missense variant G/A;T snv 4.0E-06; 6.8E-05
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2011 2011
dbSNP: rs387906796
rs387906796 		1.000 0.080 1 20086187 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2011 2011
dbSNP: rs200954922
rs200954922 		1.000 0.080 1 20086199 stop gained C/T snv 2.4E-05 4.2E-05
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs746408116
rs746408116 		1.000 0.080 1 20086227 stop gained G/A snv 4.0E-06
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs766454085
rs766454085 		1.000 0.080 1 20090658 frameshift variant A/- del
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0