Rs104894753

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894753(C;T)
Make rs104894753(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906621
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894753
Exacrs104894753
PheGenIrs104894753
nextbiors104894753
hapmaprs104894753
1000 genomesrs104894753
hgdprs104894753
ensemblrs104894753
gopubmedrs104894753
geneviewrs104894753
scholarrs104894753
googlers104894753
pharmgkbrs104894753
gwascentralrs104894753
openSNPrs104894753
23andMers104894753
23andMe allrs104894753
SNP Nexus

SNPshotrs104894753
SNPdbers104894753
MSV3drs104894753
OMIM300538
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894753(T;T)
Alt rs104894753(T;T)
Reference rs104894753(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.153172075C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011591.5,