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rs104894335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894335(A;A)
Make rs104894335(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954317
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894335
ebirs104894335
HLIrs104894335
Exacrs104894335
Varsomers104894335
Maprs104894335
PheGenIrs104894335
hapmaprs104894335
1000 genomesrs104894335
hgdprs104894335
ensemblrs104894335
gopubmedrs104894335
geneviewrs104894335
scholarrs104894335
googlers104894335
pharmgkbrs104894335
gwascentralrs104894335
openSNPrs104894335
23andMers104894335
23andMe allrs104894335
SNP Nexus

SNPshotrs104894335
SNPdbers104894335
MSV3drs104894335
GWAS Ctlgrs104894335
Max Magnitude0
OMIM107777
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894335(A;A)
Alt rs104894335(A;A)
Reference rs104894335(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.50348100G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019413.28,