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rs121964885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964885(G;T)
Make rs121964885(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083022
GeneAVP
is asnp
is mentioned by
dbSNPrs121964885
dbSNP (classic)rs121964885
ClinGenrs121964885
ebirs121964885
HLIrs121964885
Exacrs121964885
Gnomadrs121964885
Varsomers121964885
LitVarrs121964885
Maprs121964885
PheGenIrs121964885
Biobankrs121964885
1000 genomesrs121964885
hgdprs121964885
ensemblrs121964885
geneviewrs121964885
scholarrs121964885
googlers121964885
pharmgkbrs121964885
gwascentralrs121964885
openSNPrs121964885
23andMers121964885
SNPshotrs121964885
SNPdbers121964885
MSV3drs121964885
GWAS Ctlgrs121964885
Max Magnitude0
OMIM192340
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964885(T;T)
Alt rs121964885(T;T)
Reference Rs121964885(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063668C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012993.24,