ALPK2, alpha kinase 2, 115701

N. diseases: 19; N. variants: 4
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: rs12960082
rs12960082 		18 58620777 intron variant C/T snv 6.4E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs76726049
rs76726049 		1.000 0.080 18 58522227 intron variant T/C snv 9.4E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs8086790
rs8086790 		0.925 0.040 18 58577810 intron variant A/G snv 0.32
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs8086790
rs8086790 		0.925 0.040 18 58577810 intron variant A/G snv 0.32
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs55674018
rs55674018 		18 58524007 missense variant G/C snv 5.1E-04 1.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs55674018
rs55674018 		18 58524007 missense variant G/C snv 5.1E-04 1.1E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017