PI4KA, phosphatidylinositol 4-kinase alpha, 5297

N. diseases: 31; N. variants: 9
Disease: Leukodystrophy, Hypomyelinating, 2 ×
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: rs886041240
rs886041240 		1.000 0.120 22 20859112 start lost T/C snv 7.0E-06
CUI: C1837355
Disease: Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0