AAK1, AP2 associated kinase 1, 22848

N. diseases: 16; 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: rs12987661
rs12987661 		2 69586326 intron variant T/C snv 0.11
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs12987661
rs12987661 		2 69586326 intron variant T/C snv 0.11
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2311837
rs2311837 		2 69592442 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs57171084
rs57171084 		2 69466615 3 prime UTR variant T/C snv 0.15
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs5831974
rs5831974 		1.000 0.040 2 69477204 intron variant -/A delins 0.60
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.700 1.000 1 2019 2019