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rs104894757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894757(C;T)
Make rs104894757(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906047
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894757
dbSNP (classic)rs104894757
ClinGenrs104894757
ebirs104894757
HLIrs104894757
Exacrs104894757
Gnomadrs104894757
Varsomers104894757
LitVarrs104894757
Maprs104894757
PheGenIrs104894757
Biobankrs104894757
1000 genomesrs104894757
hgdprs104894757
ensemblrs104894757
geneviewrs104894757
scholarrs104894757
googlers104894757
pharmgkbrs104894757
gwascentralrs104894757
openSNPrs104894757
23andMers104894757
SNPshotrs104894757
SNPdbers104894757
MSV3drs104894757
GWAS Ctlgrs104894757
Max Magnitude0
OMIM300538
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894757(T;T)
Alt rs104894757(T;T)
Reference Rs104894757(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.153171501C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011597.10,