Rs104894747

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Orientationplus
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
Exacrs104894747
PheGenIrs104894747
nextbiors104894747
hapmaprs104894747
1000 genomesrs104894747
hgdprs104894747
ensemblrs104894747
gopubmedrs104894747
geneviewrs104894747
scholarrs104894747
googlers104894747
pharmgkbrs104894747
gwascentralrs104894747
openSNPrs104894747
23andMers104894747
23andMe allrs104894747
SNP Nexus

SNPshotrs104894747
SNPdbers104894747
MSV3drs104894747
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
CLNACC RCV000011583.5,