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rs104894328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894328(C;T)
Make rs104894328(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954663
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894328
ebirs104894328
HLIrs104894328
Exacrs104894328
Varsomers104894328
Maprs104894328
PheGenIrs104894328
hapmaprs104894328
1000 genomesrs104894328
hgdprs104894328
ensemblrs104894328
gopubmedrs104894328
geneviewrs104894328
scholarrs104894328
googlers104894328
pharmgkbrs104894328
gwascentralrs104894328
openSNPrs104894328
23andMers104894328
23andMe allrs104894328
SNP Nexus

SNPshotrs104894328
SNPdbers104894328
MSV3drs104894328
GWAS Ctlgrs104894328
Max Magnitude0
OMIM107777
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894328(T;T)
Alt rs104894328(T;T)
Reference rs104894328(C;C)
Significance Pathogenic
Disease Diabetes insipidus Nephrogenic diabetes insipidus
Variation info
Gene LOC101927318 AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000012.11:g.50348446C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019406.27, RCV000029344.1,


[PMID 10997928] Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.


[PMID 11076974OA-icon.png] The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.


[PMID 11143979] Consequences of aquaporin 2 tetramerization for genetics and routing.


[PMID 14593099] Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.


[PMID 16120822] Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.