ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Disease: Optic nerve oedema ×
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: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C0858613
Disease: Optic nerve oedema
Optic nerve oedema 		0.700 1.000 1 2019 2019