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rs121964893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964893(C;C)
Make rs121964893(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3084614
GeneAVP
is asnp
is mentioned by
dbSNPrs121964893
dbSNP (classic)rs121964893
ClinGenrs121964893
ebirs121964893
HLIrs121964893
Exacrs121964893
Gnomadrs121964893
Varsomers121964893
LitVarrs121964893
Maprs121964893
PheGenIrs121964893
Biobankrs121964893
1000 genomesrs121964893
hgdprs121964893
ensemblrs121964893
geneviewrs121964893
scholarrs121964893
googlers121964893
pharmgkbrs121964893
gwascentralrs121964893
openSNPrs121964893
23andMers121964893
SNPshotrs121964893
SNPdbers121964893
MSV3drs121964893
GWAS Ctlgrs121964893
Max Magnitude0
OMIM192340
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121964893(C;C)
Alt rs121964893(C;C)
Reference Rs121964893(T;T)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3065260A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013005.22,