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rs121964891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964891(A;A)
Make rs121964891(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083024
GeneAVP
is asnp
is mentioned by
dbSNPrs121964891
dbSNP (classic)rs121964891
ClinGenrs121964891
ebirs121964891
HLIrs121964891
Exacrs121964891
Gnomadrs121964891
Varsomers121964891
LitVarrs121964891
Maprs121964891
PheGenIrs121964891
Biobankrs121964891
1000 genomesrs121964891
hgdprs121964891
ensemblrs121964891
geneviewrs121964891
scholarrs121964891
googlers121964891
pharmgkbrs121964891
gwascentralrs121964891
openSNPrs121964891
23andMers121964891
SNPshotrs121964891
SNPdbers121964891
MSV3drs121964891
GWAS Ctlgrs121964891
Max Magnitude0
OMIM192340
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121964891(A;A)
Alt rs121964891(A;A)
Reference Rs121964891(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063670C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013001.22,