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rs727503802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503802(G;T)
Make rs727503802(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position31478363
GeneDMD
is asnp
is mentioned by
dbSNPrs727503802
dbSNP (classic)rs727503802
ClinGenrs727503802
ebirs727503802
HLIrs727503802
Exacrs727503802
Gnomadrs727503802
Varsomers727503802
LitVarrs727503802
Maprs727503802
PheGenIrs727503802
Biobankrs727503802
1000 genomesrs727503802
hgdprs727503802
ensemblrs727503802
geneviewrs727503802
scholarrs727503802
googlers727503802
pharmgkbrs727503802
gwascentralrs727503802
openSNPrs727503802
23andMers727503802
SNPshotrs727503802
SNPdbers727503802
MSV3drs727503802
GWAS Ctlgrs727503802
Max Magnitude0
ClinVar
Risk rs727503802(T;T)
Alt rs727503802(T;T)
Reference Rs727503802(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.31496480C>A
CLNSRC HGMD
CLNACC RCV000152766.4, RCV000152767.4, RCV000152768.4,