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rs387906512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906512(C;T)
Make rs387906512(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3084619
GeneAVP
is asnp
is mentioned by
dbSNPrs387906512
dbSNP (classic)rs387906512
ClinGenrs387906512
ebirs387906512
HLIrs387906512
Exacrs387906512
Gnomadrs387906512
Varsomers387906512
LitVarrs387906512
Maprs387906512
PheGenIrs387906512
Biobankrs387906512
1000 genomesrs387906512
hgdprs387906512
ensemblrs387906512
geneviewrs387906512
scholarrs387906512
googlers387906512
pharmgkbrs387906512
gwascentralrs387906512
openSNPrs387906512
23andMers387906512
SNPshotrs387906512
SNPdbers387906512
MSV3drs387906512
GWAS Ctlgrs387906512
Max Magnitude0
ClinVar
Risk rs387906512(T;T)
Alt rs387906512(T;T)
Reference Rs387906512(C;C)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3065265G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012996.24,