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rs121964887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964887(G;T)
Make rs121964887(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083138
GeneAVP
is asnp
is mentioned by
dbSNPrs121964887
dbSNP (classic)rs121964887
ClinGenrs121964887
ebirs121964887
HLIrs121964887
Exacrs121964887
Gnomadrs121964887
Varsomers121964887
LitVarrs121964887
Maprs121964887
PheGenIrs121964887
Biobankrs121964887
1000 genomesrs121964887
hgdprs121964887
ensemblrs121964887
geneviewrs121964887
scholarrs121964887
googlers121964887
pharmgkbrs121964887
gwascentralrs121964887
openSNPrs121964887
23andMers121964887
SNPshotrs121964887
SNPdbers121964887
MSV3drs121964887
GWAS Ctlgrs121964887
Max Magnitude0
OMIM192340
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121964887(T;T)
Alt rs121964887(T;T)
Reference Rs121964887(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063784C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012997.22,