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rs104894330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894330(C;T)
Make rs104894330(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954171
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894330
ebirs104894330
HLIrs104894330
Exacrs104894330
Varsomers104894330
Maprs104894330
PheGenIrs104894330
hapmaprs104894330
1000 genomesrs104894330
hgdprs104894330
ensemblrs104894330
gopubmedrs104894330
geneviewrs104894330
scholarrs104894330
googlers104894330
pharmgkbrs104894330
gwascentralrs104894330
openSNPrs104894330
23andMers104894330
23andMe allrs104894330
SNP Nexus

SNPshotrs104894330
SNPdbers104894330
MSV3drs104894330
GWAS Ctlgrs104894330
Max Magnitude0
OMIM107777
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894330(T;T)
Alt rs104894330(T;T)
Reference rs104894330(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.50347954C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019411.25,