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rs104894333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894333(C;T)
Make rs104894333(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954168
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894333
ebirs104894333
HLIrs104894333
Exacrs104894333
Varsomers104894333
Maprs104894333
PheGenIrs104894333
hapmaprs104894333
1000 genomesrs104894333
hgdprs104894333
ensemblrs104894333
gopubmedrs104894333
geneviewrs104894333
scholarrs104894333
googlers104894333
pharmgkbrs104894333
gwascentralrs104894333
openSNPrs104894333
23andMers104894333
23andMe allrs104894333
SNP Nexus

SNPshotrs104894333
SNPdbers104894333
MSV3drs104894333
GWAS Ctlgrs104894333
Max Magnitude0
OMIM107777
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894333(T;T)
Alt rs104894333(T;T)
Reference rs104894333(C;C)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AQP2 LOC101927318
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50347951C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019415.28,