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rs121964892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964892(C;T)
Make rs121964892(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3084655
GeneAVP
is asnp
is mentioned by
dbSNPrs121964892
ebirs121964892
HLIrs121964892
Exacrs121964892
Varsomers121964892
Maprs121964892
PheGenIrs121964892
hapmaprs121964892
1000 genomesrs121964892
hgdprs121964892
ensemblrs121964892
gopubmedrs121964892
geneviewrs121964892
scholarrs121964892
googlers121964892
pharmgkbrs121964892
gwascentralrs121964892
openSNPrs121964892
23andMers121964892
23andMe allrs121964892
SNP Nexus

SNPshotrs121964892
SNPdbers121964892
MSV3drs121964892
GWAS Ctlgrs121964892
Max Magnitude0
OMIM192340
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121964892(T;T)
Alt rs121964892(T;T)
Reference rs121964892(C;C)
Significance Pathogenic
Disease Diabetes insipidus
Variation info
Gene AVP
CLNDBN Diabetes insipidus, neurohypophyseal, autosomal recessive
Reversed 1
HGVS NC_000020.10:g.3065301G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013003.16,