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rs121964890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964890(C;T)
Make rs121964890(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083039
GeneAVP
is asnp
is mentioned by
dbSNPrs121964890
dbSNP (classic)rs121964890
ClinGenrs121964890
ebirs121964890
HLIrs121964890
Exacrs121964890
Gnomadrs121964890
Varsomers121964890
LitVarrs121964890
Maprs121964890
PheGenIrs121964890
Biobankrs121964890
1000 genomesrs121964890
hgdprs121964890
ensemblrs121964890
geneviewrs121964890
scholarrs121964890
googlers121964890
pharmgkbrs121964890
gwascentralrs121964890
openSNPrs121964890
23andMers121964890
SNPshotrs121964890
SNPdbers121964890
MSV3drs121964890
GWAS Ctlgrs121964890
Max Magnitude0
OMIM192340
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121964890(T;T)
Alt rs121964890(T;T)
Reference Rs121964890(C;C)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063685G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013000.24,