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rs878854407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854407(C;T)
Make rs878854407(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position54814725
GeneMAGED2, SNORA11
is asnp
is mentioned by
dbSNPrs878854407
dbSNP (classic)rs878854407
ClinGenrs878854407
ebirs878854407
HLIrs878854407
Exacrs878854407
Gnomadrs878854407
Varsomers878854407
LitVarrs878854407
Maprs878854407
PheGenIrs878854407
Biobankrs878854407
1000 genomesrs878854407
hgdprs878854407
ensemblrs878854407
geneviewrs878854407
scholarrs878854407
googlers878854407
pharmgkbrs878854407
gwascentralrs878854407
openSNPrs878854407
23andMers878854407
SNPshotrs878854407
SNPdbers878854407
MSV3drs878854407
GWAS Ctlgrs878854407
Max Magnitude0
ClinVar
Risk rs878854407(T;T)
Alt rs878854407(T;T)
Reference Rs878854407(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SNORA11 MAGED2
CLNDBN Bartter syndrome, type 5, antenatal, transient
Reversed 0
HGVS NC_000023.10:g.54841158C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000211522.2,