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rs104894341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894341(A;A)
Make rs104894341(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954672
GeneAQP2, LOC101927318
is asnp
is mentioned by
dbSNPrs104894341
ebirs104894341
HLIrs104894341
Exacrs104894341
Varsomers104894341
Maprs104894341
PheGenIrs104894341
hapmaprs104894341
1000 genomesrs104894341
hgdprs104894341
ensemblrs104894341
gopubmedrs104894341
geneviewrs104894341
scholarrs104894341
googlers104894341
pharmgkbrs104894341
gwascentralrs104894341
openSNPrs104894341
23andMers104894341
23andMe allrs104894341
SNP Nexus

SNPshotrs104894341
SNPdbers104894341
MSV3drs104894341
GWAS Ctlgrs104894341
Max Magnitude0
OMIM107777
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894341(A;A)
Alt rs104894341(A;A)
Reference rs104894341(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.50348455G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019423.29,