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rs104894332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894332(A;A)
Make rs104894332(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49955564
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894332
ebirs104894332
HLIrs104894332
Exacrs104894332
Varsomers104894332
Maprs104894332
PheGenIrs104894332
hapmaprs104894332
1000 genomesrs104894332
hgdprs104894332
ensemblrs104894332
gopubmedrs104894332
geneviewrs104894332
scholarrs104894332
googlers104894332
pharmgkbrs104894332
gwascentralrs104894332
openSNPrs104894332
23andMers104894332
23andMe allrs104894332
SNP Nexus

SNPshotrs104894332
SNPdbers104894332
MSV3drs104894332
GWAS Ctlgrs104894332
Max Magnitude0
OMIM107777
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894332(A;A)
Alt rs104894332(A;A)
Reference rs104894332(G;G)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AQP2 LOC101927318
CLNDBN Diabetes insipidus, nephrogenic, autosomal dominant
Reversed 0
HGVS NC_000012.11:g.50349347G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019414.24,