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rs104894329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894329(C;C)
Make rs104894329(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49955438
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894329
ebirs104894329
HLIrs104894329
Exacrs104894329
Varsomers104894329
Maprs104894329
PheGenIrs104894329
hapmaprs104894329
1000 genomesrs104894329
hgdprs104894329
ensemblrs104894329
gopubmedrs104894329
geneviewrs104894329
scholarrs104894329
googlers104894329
pharmgkbrs104894329
gwascentralrs104894329
openSNPrs104894329
23andMers104894329
23andMe allrs104894329
SNP Nexus

SNPshotrs104894329
SNPdbers104894329
MSV3drs104894329
GWAS Ctlgrs104894329
Max Magnitude0
OMIM107777
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894329(C;C)
Alt rs104894329(C;C)
Reference rs104894329(T;T)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene LOC101927318 AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50349221T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019407.28,