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rs104894747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894747(A;A)
Make rs104894747(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905901
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894747
dbSNP (classic)rs104894747
ClinGenrs104894747
ebirs104894747
HLIrs104894747
Exacrs104894747
Gnomadrs104894747
Varsomers104894747
LitVarrs104894747
Maprs104894747
PheGenIrs104894747
Biobankrs104894747
1000 genomesrs104894747
hgdprs104894747
ensemblrs104894747
geneviewrs104894747
scholarrs104894747
googlers104894747
pharmgkbrs104894747
gwascentralrs104894747
openSNPrs104894747
23andMers104894747
SNPshotrs104894747
SNPdbers104894747
MSV3drs104894747
GWAS Ctlgrs104894747
Max Magnitude0
OMIM300538
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894747(A;A)
Alt rs104894747(A;A)
Reference Rs104894747(C;C)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked
Reversed 0
HGVS NC_000023.10:g.153171355C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011583.6,