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rs121964888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964888(C;C)
Make rs121964888(C;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3083139
GeneAVP
is asnp
is mentioned by
dbSNPrs121964888
dbSNP (classic)rs121964888
ClinGenrs121964888
ebirs121964888
HLIrs121964888
Exacrs121964888
Gnomadrs121964888
Varsomers121964888
LitVarrs121964888
Maprs121964888
PheGenIrs121964888
Biobankrs121964888
1000 genomesrs121964888
hgdprs121964888
ensemblrs121964888
geneviewrs121964888
scholarrs121964888
googlers121964888
pharmgkbrs121964888
gwascentralrs121964888
openSNPrs121964888
23andMers121964888
SNPshotrs121964888
SNPdbers121964888
MSV3drs121964888
GWAS Ctlgrs121964888
Max Magnitude0
OMIM192340
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121964888(C;C)
Alt rs121964888(C;C)
Reference Rs121964888(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063785C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012998.16,