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rs74315383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315383(G;G)
Make rs74315383(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3082779
GeneAVP
is asnp
is mentioned by
dbSNPrs74315383
dbSNP (classic)rs74315383
ClinGenrs74315383
ebirs74315383
HLIrs74315383
Exacrs74315383
Gnomadrs74315383
Varsomers74315383
LitVarrs74315383
Maprs74315383
PheGenIrs74315383
Biobankrs74315383
1000 genomesrs74315383
hgdprs74315383
ensemblrs74315383
geneviewrs74315383
scholarrs74315383
googlers74315383
pharmgkbrs74315383
gwascentralrs74315383
openSNPrs74315383
23andMers74315383
SNPshotrs74315383
SNPdbers74315383
MSV3drs74315383
GWAS Ctlgrs74315383
Max Magnitude0
OMIM192340
Desc
Variant0017
Relatedalso
ClinVar
Risk rs74315383(G;G)
Alt rs74315383(G;G)
Reference Rs74315383(T;T)
Significance Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063425A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013004.16,