AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
Disease: Neuromyelitis Optica ×
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: rs150587304
rs150587304 		1.000 0.120 18 26862573 stop gained C/A;G snv 3.2E-05; 2.9E-04
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016