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rs727503836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503836(G;T)
Make rs727503836(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position32454733
GeneDMD
is asnp
is mentioned by
dbSNPrs727503836
dbSNP (classic)rs727503836
ClinGenrs727503836
ebirs727503836
HLIrs727503836
Exacrs727503836
Gnomadrs727503836
Varsomers727503836
LitVarrs727503836
Maprs727503836
PheGenIrs727503836
Biobankrs727503836
1000 genomesrs727503836
hgdprs727503836
ensemblrs727503836
geneviewrs727503836
scholarrs727503836
googlers727503836
pharmgkbrs727503836
gwascentralrs727503836
openSNPrs727503836
23andMers727503836
SNPshotrs727503836
SNPdbers727503836
MSV3drs727503836
GWAS Ctlgrs727503836
Max Magnitude0
ClinVar
Risk rs727503836(T;T)
Alt rs727503836(T;T)
Reference Rs727503836(G;G)
Significance Pathogenic
Disease Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32472850C>A
CLNSRC
CLNACC RCV000152916.3, RCV000152917.3, RCV000152918.3,