|
rs1186238
|
AQP4;AQP4-AS1
|
Hair Color
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
|
rs1555661648
|
AQP4;AQP4-AS1
|
Mental Retardation
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555661648
|
AQP4;AQP4-AS1
|
Sensorineural Hearing Loss (disorder)
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555661648
|
AQP4;AQP4-AS1
|
Cerebellar Ataxia
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555661648
|
AQP4;AQP4-AS1
|
Short stature
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555661648
|
AQP4;AQP4-AS1
|
Cardiomyopathies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555661648
|
AQP4;AQP4-AS1
|
Mild Mental Retardation
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs2075575
|
AQP4;AQP4-AS1
|
Sudden infant death syndrome
|
|
0.020 |
GeneticVariation |
BEFREE |
We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (AQP4), which were previously shown to be associated with (i) SIDS in Norwegian infants (rs2075575), (ii) severe brain edema (rs9951307), and (iii) increased brain water permeability (rs3906956).
|
24727946 |
2014 |
|
rs2075575
|
AQP4;AQP4-AS1
|
Sudden infant death syndrome
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, this study indicates that rs2075575 may be of significance as a predisposing factor for SIDS, and that the CT/TT genotypes are associated with an increased brain/body weight ratio in infants dying from SIDS during the vulnerable period from birth up to 3 mo of age.
|
20351659 |
2010 |
|
rs3763040
|
AQP4;AQP4-AS1
|
Impaired cognition
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3763040
|
AQP4;AQP4-AS1
|
Mental deterioration
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3763040
|
AQP4;AQP4-AS1
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3763043
|
AQP4;AQP4-AS1
|
Impaired cognition
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3763043
|
AQP4;AQP4-AS1
|
Mental deterioration
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3763043
|
AQP4;AQP4-AS1
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3875089
|
AQP4;AQP4-AS1
|
Impaired cognition
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3875089
|
AQP4;AQP4-AS1
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs3875089
|
AQP4;AQP4-AS1
|
Mental deterioration
|
|
0.010 |
GeneticVariation |
BEFREE |
However, <i>AQP4</i> SNPs were associated with altered rates of cognitive decline after AD diagnosis, with two SNPS (rs9951307 and rs3875089) associated with slower cognitive decline and two (rs3763040 and rs3763043) associated with more rapid cognitive decline after AD diagnosis.
|
29067342 |
2017 |
|
rs72878794
|
AQP4;AQP4-AS1
|
Sudden infant death syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
The CC genotype of rs72878794 in the AQP4 gene and a combination of the CC genotype in rs17375748, rs1130183, rs12133079 and rs1186688 in KCNJ10 (4xCC) were found to be associated with SIDS.
|
28520217 |
2017 |
|
rs2075575
|
AQP4;AQP4-AS1
|
Neuromyelitis Optica
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that the T allele of rs2075575 is a risk for AQP4-Ab-positive NMO.
|
27012886 |
2016 |
|
rs2075575
|
AQP4;AQP4-AS1
|
Hypertensive disease
|
|
0.010 |
GeneticVariation |
BEFREE |
By stratified analysis, rs2075575 and rs9951307 polymorphisms were statistically significant in the subjects with hypertension and hemoglobin A1c (P < .05), whereas the rs2075575 polymorphism was associated with high serum cholesterol (P < .05) and the rs9951307 polymorphism was associated with low serum homocysteine (P < .05).
|
24582793 |
2015 |
|
rs3906956
|
AQP4;AQP4-AS1
|
Sudden infant death syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (AQP4), which were previously shown to be associated with (i) SIDS in Norwegian infants (rs2075575), (ii) severe brain edema (rs9951307), and (iii) increased brain water permeability (rs3906956).
|
24727946 |
2014 |
|
rs2075575
|
AQP4;AQP4-AS1
|
Sudden sensorineural hearing loss
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the associations between genetic polymorphisms in aquaporin 4 (AQP4, rs2075575), aquaporin 5 (AQP5, rs3736309), and estrogen receptor α (ERα1, rs2234693; ERα2, rs9340799) and susceptibility to Ménière's disease or SSNHL.
|
23352976 |
2013 |
|
rs2075575
|
AQP4;AQP4-AS1
|
Meniere Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the associations between genetic polymorphisms in aquaporin 4 (AQP4, rs2075575), aquaporin 5 (AQP5, rs3736309), and estrogen receptor α (ERα1, rs2234693; ERα2, rs9340799) and susceptibility to Ménière's disease or SSNHL.
|
23352976 |
2013 |
|
rs150587304
|
AQP4;AQP4-AS1
|
Neuromyelitis Optica
|
|
0.010 |
GeneticVariation |
BEFREE |
In 3 patients with NMO (2 related), we detected 2 different missense allelic mutations at Arg19 (R19I and R19T).
|
21900637 |
2011 |