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rs104894339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894339(C;T)
Make rs104894339(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49955577
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894339
ebirs104894339
HLIrs104894339
Exacrs104894339
Varsomers104894339
Maprs104894339
PheGenIrs104894339
hapmaprs104894339
1000 genomesrs104894339
hgdprs104894339
ensemblrs104894339
gopubmedrs104894339
geneviewrs104894339
scholarrs104894339
googlers104894339
pharmgkbrs104894339
gwascentralrs104894339
openSNPrs104894339
23andMers104894339
23andMe allrs104894339
SNP Nexus

SNPshotrs104894339
SNPdbers104894339
MSV3drs104894339
GWAS Ctlgrs104894339
Max Magnitude0
OMIM107777
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104894339(T;T)
Alt rs104894339(T;T)
Reference rs104894339(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.50349360C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019422.25,