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rs104894337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894337(C;G)
Make rs104894337(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954647
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894337
ebirs104894337
HLIrs104894337
Exacrs104894337
Varsomers104894337
Maprs104894337
PheGenIrs104894337
hapmaprs104894337
1000 genomesrs104894337
hgdprs104894337
ensemblrs104894337
gopubmedrs104894337
geneviewrs104894337
scholarrs104894337
googlers104894337
pharmgkbrs104894337
gwascentralrs104894337
openSNPrs104894337
23andMers104894337
23andMe allrs104894337
SNP Nexus

SNPshotrs104894337
SNPdbers104894337
MSV3drs104894337
GWAS Ctlgrs104894337
Max Magnitude0
OMIM107777
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894337(G,T;G,T)
Alt rs104894337(G,T;G,T)
Reference rs104894337(C;C)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene LOC101927318 AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50348430C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019417.29,