ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
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: rs2074379
rs2074379
1.000 4 112431743 missense variant G/A snv 0.62 0.65
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia
0.010 1.000 1 2015 2015
dbSNP: rs2074388
rs2074388
1.000 4 112431241 missense variant G/A snv 0.62 0.65
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia
0.010 1.000 1 2015 2015