PI4KA, phosphatidylinositol 4-kinase alpha, 5297

N. diseases: 31; N. variants: 9
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: rs121912420
rs121912420 		1.000 0.040 22 20786951 missense variant C/T snv 1.4E-05
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.800 1.000 4 1989 2004
dbSNP: rs5907
rs5907 		1.000 0.040 22 20779935 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.800 1.000 4 1989 2004
dbSNP: rs747119727
rs747119727 		1.000 22 20713292 missense variant C/T snv 1.9E-05 1.4E-05
CUI: C4225295
Disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 		0.800 0
dbSNP: rs142451096
rs142451096 		1.000 0.040 22 20786905 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 1.000 4 1989 2004
dbSNP: rs587777759
rs587777759 		1.000 0.040 22 20779632 frameshift variant -/T delins
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs587777760
rs587777760 		1.000 0.040 22 20786993 frameshift variant TT/- delins
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs777006911
rs777006911 		1.000 22 20765636 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C4225295
Disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 		0.700 0
dbSNP: rs869312906
rs869312906 		1.000 0.120 22 20859330 frameshift variant G/- delins
CUI: C1836033
Disease: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
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