AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
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: rs2075575
rs2075575
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2014
dbSNP: rs3906956
rs3906956
1.000 0.040 18 26856350 missense variant A/G snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs72878794
rs72878794
1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017