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rs878854405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878854405(A;G)
Make rs878854405(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position54812155
GeneMAGED2
is asnp
is mentioned by
dbSNPrs878854405
dbSNP (classic)rs878854405
ClinGenrs878854405
ebirs878854405
HLIrs878854405
Exacrs878854405
Gnomadrs878854405
Varsomers878854405
LitVarrs878854405
Maprs878854405
PheGenIrs878854405
Biobankrs878854405
1000 genomesrs878854405
hgdprs878854405
ensemblrs878854405
geneviewrs878854405
scholarrs878854405
googlers878854405
pharmgkbrs878854405
gwascentralrs878854405
openSNPrs878854405
23andMers878854405
SNPshotrs878854405
SNPdbers878854405
MSV3drs878854405
GWAS Ctlgrs878854405
Max Magnitude0
ClinVar
Risk rs878854405(G;G)
Alt rs878854405(G;G)
Reference Rs878854405(A;A)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene MAGED2
CLNDBN Bartter syndrome, type 5, antenatal, transient
Reversed 0
HGVS NC_000023.10:g.54838588A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000211544.2,