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rs104894758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894758(G;G)
Make rs104894758(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905819
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894758
dbSNP (classic)rs104894758
ClinGenrs104894758
ebirs104894758
HLIrs104894758
Exacrs104894758
Gnomadrs104894758
Varsomers104894758
LitVarrs104894758
Maprs104894758
PheGenIrs104894758
Biobankrs104894758
1000 genomesrs104894758
hgdprs104894758
ensemblrs104894758
geneviewrs104894758
scholarrs104894758
googlers104894758
pharmgkbrs104894758
gwascentralrs104894758
openSNPrs104894758
23andMers104894758
SNPshotrs104894758
SNPdbers104894758
MSV3drs104894758
GWAS Ctlgrs104894758
Max Magnitude0
OMIM300538
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894758(G;G)
Alt rs104894758(G;G)
Reference Rs104894758(T;T)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked
Reversed 0
HGVS NC_000023.10:g.153171273T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011598.2,