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rs28931580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28931580(A;C)
Make rs28931580(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49951000
GeneAQP2
is asnp
is mentioned by
dbSNPrs28931580
ebirs28931580
HLIrs28931580
Exacrs28931580
Varsomers28931580
Maprs28931580
PheGenIrs28931580
hapmaprs28931580
1000 genomesrs28931580
hgdprs28931580
ensemblrs28931580
gopubmedrs28931580
geneviewrs28931580
scholarrs28931580
googlers28931580
pharmgkbrs28931580
gwascentralrs28931580
openSNPrs28931580
23andMers28931580
23andMe allrs28931580
SNP Nexus

SNPshotrs28931580
SNPdbers28931580
MSV3drs28931580
GWAS Ctlgrs28931580
Max Magnitude0
OMIM107777
DescDIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
Variant0016
Relatedalso
Neighborrs28929477
Distance129


ClinVar
Risk rs28931580(C;C)
Alt rs28931580(C;C)
Reference rs28931580(A;A)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AQP2
CLNDBN Diabetes insipidus, nephrogenic, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.50344783A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019420.29,