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rs1057518723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518723(G;T)
Make rs1057518723(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153905841
GeneAVPR2
is asnp
is mentioned by
dbSNPrs1057518723
dbSNP (classic)rs1057518723
ClinGenrs1057518723
ebirs1057518723
HLIrs1057518723
Exacrs1057518723
Gnomadrs1057518723
Varsomers1057518723
LitVarrs1057518723
Maprs1057518723
PheGenIrs1057518723
Biobankrs1057518723
1000 genomesrs1057518723
hgdprs1057518723
ensemblrs1057518723
geneviewrs1057518723
scholarrs1057518723
googlers1057518723
pharmgkbrs1057518723
gwascentralrs1057518723
openSNPrs1057518723
23andMers1057518723
SNPshotrs1057518723
SNPdbers1057518723
MSV3drs1057518723
GWAS Ctlgrs1057518723
Max Magnitude0
ClinVar
Risk rs1057518723(T;T)
Alt rs1057518723(T;T)
Reference Rs1057518723(G;G)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked
Reversed 0
HGVS NC_000023.10:g.153171295G>T
CLNSRC
CLNACC RCV000414968.1,