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rs875989852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs875989852(A;T)
Make rs875989852(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position54810073
GeneMAGED2
is asnp
is mentioned by
dbSNPrs875989852
dbSNP (classic)rs875989852
ClinGenrs875989852
ebirs875989852
HLIrs875989852
Exacrs875989852
Gnomadrs875989852
Varsomers875989852
LitVarrs875989852
Maprs875989852
PheGenIrs875989852
Biobankrs875989852
1000 genomesrs875989852
hgdprs875989852
ensemblrs875989852
geneviewrs875989852
scholarrs875989852
googlers875989852
pharmgkbrs875989852
gwascentralrs875989852
openSNPrs875989852
23andMers875989852
SNPshotrs875989852
SNPdbers875989852
MSV3drs875989852
GWAS Ctlgrs875989852
Max Magnitude0
ClinVar
Risk rs875989852(T;T)
Alt rs875989852(T;T)
Reference Rs875989852(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.54836506A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000211438.2,