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rs28934878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28934878(C;C)
Make rs28934878(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083099
GeneAVP
is asnp
is mentioned by
dbSNPrs28934878
ebirs28934878
HLIrs28934878
Exacrs28934878
Varsomers28934878
Maprs28934878
PheGenIrs28934878
hapmaprs28934878
1000 genomesrs28934878
hgdprs28934878
ensemblrs28934878
gopubmedrs28934878
geneviewrs28934878
scholarrs28934878
googlers28934878
pharmgkbrs28934878
gwascentralrs28934878
openSNPrs28934878
23andMers28934878
23andMe allrs28934878
SNP Nexus

SNPshotrs28934878
SNPdbers28934878
MSV3drs28934878
GWAS Ctlgrs28934878
Max Magnitude0
OMIM192340
DescDIABETES INSIPIDUS, FAMILIAL CENTRAL
Variant0019
Relatedalso


ClinVar
Risk rs28934878(C;C)
Alt rs28934878(C;C)
Reference rs28934878(T;T)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063745A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013002.22,