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rs104894336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894336(C;G)
Make rs104894336(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49950894
GeneAQP2
is asnp
is mentioned by
dbSNPrs104894336
ebirs104894336
HLIrs104894336
Exacrs104894336
Varsomers104894336
Maprs104894336
PheGenIrs104894336
hapmaprs104894336
1000 genomesrs104894336
hgdprs104894336
ensemblrs104894336
gopubmedrs104894336
geneviewrs104894336
scholarrs104894336
googlers104894336
pharmgkbrs104894336
gwascentralrs104894336
openSNPrs104894336
23andMers104894336
23andMe allrs104894336
SNP Nexus

SNPshotrs104894336
SNPdbers104894336
MSV3drs104894336
GWAS Ctlgrs104894336
Max Magnitude0
OMIM107777
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894336(G;G)
Alt rs104894336(G;G)
Reference rs104894336(C;C)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50344677C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019416.28,