Rs104894749

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894749(A;G)
Make rs104894749(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906120
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894749
Exacrs104894749
PheGenIrs104894749
nextbiors104894749
hapmaprs104894749
1000 genomesrs104894749
hgdprs104894749
ensemblrs104894749
gopubmedrs104894749
geneviewrs104894749
scholarrs104894749
googlers104894749
pharmgkbrs104894749
gwascentralrs104894749
openSNPrs104894749
23andMers104894749
23andMe allrs104894749
SNP Nexus

SNPshotrs104894749
SNPdbers104894749
MSV3drs104894749
OMIM300538
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894749(G;G)
Alt rs104894749(G;G)
Reference rs104894749(A;A)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171574A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011585.1, RCV000029393.1,


[PMID 1303257] Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.


[PMID 7833930] Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.


[PMID 7913579OA-icon.png] Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.


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


[PMID 11128419] Nephrogenic diabetes insipidus.


[PMID 17216256] A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.