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rs1057516192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516192(G;T)
Make rs1057516192(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position3083168
GeneAVP
is asnp
is mentioned by
dbSNPrs1057516192
dbSNP (classic)rs1057516192
ClinGenrs1057516192
ebirs1057516192
HLIrs1057516192
Exacrs1057516192
Gnomadrs1057516192
Varsomers1057516192
LitVarrs1057516192
Maprs1057516192
PheGenIrs1057516192
Biobankrs1057516192
1000 genomesrs1057516192
hgdprs1057516192
ensemblrs1057516192
geneviewrs1057516192
scholarrs1057516192
googlers1057516192
pharmgkbrs1057516192
gwascentralrs1057516192
openSNPrs1057516192
23andMers1057516192
SNPshotrs1057516192
SNPdbers1057516192
MSV3drs1057516192
GWAS Ctlgrs1057516192
Max Magnitude0
ClinVar
Risk rs1057516192(T;T)
Alt rs1057516192(T;T)
Reference Rs1057516192(G;G)
Significance Probable-Pathogenic
Disease Neurohypophyseal diabetes insipidus
Variation info
Gene AVP
CLNDBN Neurohypophyseal diabetes insipidus
Reversed 1
HGVS NC_000020.10:g.3063814C>A
CLNSRC
CLNACC RCV000408826.1,