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rs104894790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894790(C;T)
Make rs104894790(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31178751
GeneDMD
is asnp
is mentioned by
dbSNPrs104894790
dbSNP (classic)rs104894790
ClinGenrs104894790
ebirs104894790
HLIrs104894790
Exacrs104894790
Gnomadrs104894790
Varsomers104894790
LitVarrs104894790
Maprs104894790
PheGenIrs104894790
Biobankrs104894790
1000 genomesrs104894790
hgdprs104894790
ensemblrs104894790
geneviewrs104894790
scholarrs104894790
googlers104894790
pharmgkbrs104894790
gwascentralrs104894790
openSNPrs104894790
23andMers104894790
SNPshotrs104894790
SNPdbers104894790
MSV3drs104894790
GWAS Ctlgrs104894790
Max Magnitude0
OMIM300377
Desc
Variant0067
Relatedalso
ClinVar
Risk rs104894790(T;T)
Alt rs104894790(T;T)
Reference Rs104894790(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided
Reversed 1
HGVS NC_000023.10:g.31196868G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012024.4, RCV000150053.2, RCV000437942.1,