Rs104894761

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894761
PheGenIrs104894761
nextbiors104894761
hapmaprs104894761
1000 genomesrs104894761
hgdprs104894761
ensemblrs104894761
gopubmedrs104894761
geneviewrs104894761
scholarrs104894761
googlers104894761
pharmgkbrs104894761
gwascentralrs104894761
openSNPrs104894761
23andMers104894761
23andMe allrs104894761
SNP Nexus

SNPshotrs104894761
SNPdbers104894761
MSV3drs104894761
GeneAVPR2
ChromosomeX
Orientationplus
Position153905915
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894761(C;T)
Make rs104894761(T;T)
OMIM300538
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894761(G,T;G,T)
Alt rs104894761(G,T;G,T)
Reference rs104894761(C;C)
Significance 5
Disease Nephrogenic diabetes insipidus, Nephrogenic syndrome of inappropriate antidiuresis
ClinVar info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, Nephrogenic syndrome of inappropriate antidiuresis
Reversed 0
CLNHGVS NC_000023.10:g.153171369C>G; NC_000023.10:g.153171369C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029389.1, RCV000011601.9


[PMID 19812297] Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.