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rs878854404

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854404(C;G)
Make rs878854404(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position54812204
GeneMAGED2
is asnp
is mentioned by
dbSNPrs878854404
ebirs878854404
HLIrs878854404
Exacrs878854404
Varsomers878854404
Maprs878854404
PheGenIrs878854404
hapmaprs878854404
1000 genomesrs878854404
hgdprs878854404
ensemblrs878854404
gopubmedrs878854404
geneviewrs878854404
scholarrs878854404
googlers878854404
pharmgkbrs878854404
gwascentralrs878854404
openSNPrs878854404
23andMers878854404
23andMe allrs878854404
SNP Nexus

SNPshotrs878854404
SNPdbers878854404
MSV3drs878854404
GWAS Ctlgrs878854404
Max Magnitude0
ClinVar
Risk rs878854404(G;G)
Alt rs878854404(G;G)
Reference rs878854404(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene MAGED2
CLNDBN Bartter syndrome, type 5, antenatal, transient
Reversed 0
HGVS NC_000023.10:g.54838637C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000211517.1,