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rs121964884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964884(A;A)
Make rs121964884(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083005
GeneAVP
is asnp
is mentioned by
dbSNPrs121964884
dbSNP (classic)rs121964884
ClinGenrs121964884
ebirs121964884
HLIrs121964884
Exacrs121964884
Gnomadrs121964884
Varsomers121964884
LitVarrs121964884
Maprs121964884
PheGenIrs121964884
Biobankrs121964884
1000 genomesrs121964884
hgdprs121964884
ensemblrs121964884
geneviewrs121964884
scholarrs121964884
googlers121964884
pharmgkbrs121964884
gwascentralrs121964884
openSNPrs121964884
23andMers121964884
SNPshotrs121964884
SNPdbers121964884
MSV3drs121964884
GWAS Ctlgrs121964884
Max Magnitude0
OMIM192340
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964884(A;A) rs121964884(T;T)
Alt rs121964884(A;A) rs121964884(T;T)
Reference Rs121964884(C;C)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063651G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012992.24,