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rs878854406

From SNPedia

Orientationplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs878854406(-;-)
Make rs878854406(-;TG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position54810062
GeneMAGED2
is asnp
is mentioned by
dbSNPrs878854406
ebirs878854406
HLIrs878854406
Exacrs878854406
Varsomers878854406
Maprs878854406
PheGenIrs878854406
hapmaprs878854406
1000 genomesrs878854406
hgdprs878854406
ensemblrs878854406
gopubmedrs878854406
geneviewrs878854406
scholarrs878854406
googlers878854406
pharmgkbrs878854406
gwascentralrs878854406
openSNPrs878854406
23andMers878854406
23andMe allrs878854406
SNP Nexus

SNPshotrs878854406
SNPdbers878854406
MSV3drs878854406
GWAS Ctlgrs878854406
Max Magnitude0
ClinVar
Risk rs878854406(;)
Alt rs878854406(;)
Reference rs878854406(TG;TG)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene MAGED2
CLNDBN Bartter syndrome, type 5, antenatal, transient
Reversed 0
HGVS NC_000023.10:g.54836495_54836496delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000211479.1,