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rs104894338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894338(G;T)
Make rs104894338(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49951129
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894338
ebirs104894338
HLIrs104894338
Exacrs104894338
Varsomers104894338
Maprs104894338
PheGenIrs104894338
hapmaprs104894338
1000 genomesrs104894338
hgdprs104894338
ensemblrs104894338
gopubmedrs104894338
geneviewrs104894338
scholarrs104894338
googlers104894338
pharmgkbrs104894338
gwascentralrs104894338
openSNPrs104894338
23andMers104894338
23andMe allrs104894338
SNP Nexus

SNPshotrs104894338
SNPdbers104894338
MSV3drs104894338
GWAS Ctlgrs104894338
Merged fromRs28929477
Max Magnitude0
OMIM107777
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894338(T;T)
Alt rs104894338(T;T)
Reference rs104894338(G;G)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AQP2 LOC101927318
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50344912G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019421.25,