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rs121964883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964883(G;T)
Make rs121964883(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083156
GeneAVP
is asnp
is mentioned by
dbSNPrs121964883
dbSNP (classic)rs121964883
ClinGenrs121964883
ebirs121964883
HLIrs121964883
Exacrs121964883
Gnomadrs121964883
Varsomers121964883
LitVarrs121964883
Maprs121964883
PheGenIrs121964883
Biobankrs121964883
1000 genomesrs121964883
hgdprs121964883
ensemblrs121964883
geneviewrs121964883
scholarrs121964883
googlers121964883
pharmgkbrs121964883
gwascentralrs121964883
openSNPrs121964883
23andMers121964883
SNPshotrs121964883
SNPdbers121964883
MSV3drs121964883
GWAS Ctlgrs121964883
Max Magnitude0
OMIM192340
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964883(T;T)
Alt rs121964883(T;T)
Reference Rs121964883(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063802C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012989.24,