Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894334(A;A)
Make rs104894334(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954233
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894334
ebirs104894334
HLIrs104894334
Exacrs104894334
Varsomers104894334
Maprs104894334
PheGenIrs104894334
hapmaprs104894334
1000 genomesrs104894334
hgdprs104894334
ensemblrs104894334
gopubmedrs104894334
geneviewrs104894334
scholarrs104894334
googlers104894334
pharmgkbrs104894334
gwascentralrs104894334
openSNPrs104894334
23andMers104894334
23andMe allrs104894334
SNP Nexus

SNPshotrs104894334
SNPdbers104894334
MSV3drs104894334
GWAS Ctlgrs104894334
Max Magnitude0
OMIM107777
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894334(A;A)
Alt rs104894334(A;A)
Reference rs104894334(G;G)
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.50348016G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019410.25, RCV000029343.2,


[PMID 9593782OA-icon.png] Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.


[PMID 10069656] Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme.


[PMID 10574954] Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.


[PMID 10770218] Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.