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rs104894759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894759(A;A)
Make rs104894759(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905643
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894759
dbSNP (classic)rs104894759
ClinGenrs104894759
ebirs104894759
HLIrs104894759
Exacrs104894759
Gnomadrs104894759
Varsomers104894759
LitVarrs104894759
Maprs104894759
PheGenIrs104894759
Biobankrs104894759
1000 genomesrs104894759
hgdprs104894759
ensemblrs104894759
geneviewrs104894759
scholarrs104894759
googlers104894759
pharmgkbrs104894759
gwascentralrs104894759
openSNPrs104894759
23andMers104894759
SNPshotrs104894759
SNPdbers104894759
MSV3drs104894759
GWAS Ctlgrs104894759
Max Magnitude0
OMIM300538
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104894759(A;A)
Alt rs104894759(A;A)
Reference Rs104894759(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.153171097T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011599.7,