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rs104894326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894326(A;A)
Make rs104894326(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49951020
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894326
ebirs104894326
HLIrs104894326
Exacrs104894326
Varsomers104894326
Maprs104894326
PheGenIrs104894326
hapmaprs104894326
1000 genomesrs104894326
hgdprs104894326
ensemblrs104894326
gopubmedrs104894326
geneviewrs104894326
scholarrs104894326
googlers104894326
pharmgkbrs104894326
gwascentralrs104894326
openSNPrs104894326
23andMers104894326
23andMe allrs104894326
SNP Nexus

SNPshotrs104894326
SNPdbers104894326
MSV3drs104894326
GWAS Ctlgrs104894326
Max Magnitude0
OMIM107777
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894326(A;A)
Alt rs104894326(A;A)
Reference rs104894326(G;G)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene LOC101927318 AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50344803G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019408.27,