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rs387906511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906511(A;A)
Make rs387906511(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3084620
GeneAVP
is asnp
is mentioned by
dbSNPrs387906511
dbSNP (classic)rs387906511
ClinGenrs387906511
ebirs387906511
HLIrs387906511
Exacrs387906511
Gnomadrs387906511
Varsomers387906511
LitVarrs387906511
Maprs387906511
PheGenIrs387906511
Biobankrs387906511
1000 genomesrs387906511
hgdprs387906511
ensemblrs387906511
geneviewrs387906511
scholarrs387906511
googlers387906511
pharmgkbrs387906511
gwascentralrs387906511
openSNPrs387906511
23andMers387906511
SNPshotrs387906511
SNPdbers387906511
MSV3drs387906511
GWAS Ctlgrs387906511
Max Magnitude0
ClinVar
Risk rs387906511(A;A)
Alt rs387906511(A;A)
Reference Rs387906511(G;G)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3065266C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012990.22,