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rs398124081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTC;TTTC) 0 common in clinvar
Make rs398124081(-;-)
Make rs398124081(-;TTTC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31348558
GeneDMD
is asnp
is mentioned by
dbSNPrs398124081
dbSNP (classic)rs398124081
ClinGenrs398124081
ebirs398124081
HLIrs398124081
Exacrs398124081
Gnomadrs398124081
Varsomers398124081
LitVarrs398124081
Maprs398124081
PheGenIrs398124081
Biobankrs398124081
1000 genomesrs398124081
hgdprs398124081
ensemblrs398124081
geneviewrs398124081
scholarrs398124081
googlers398124081
pharmgkbrs398124081
gwascentralrs398124081
openSNPrs398124081
23andMers398124081
SNPshotrs398124081
SNPdbers398124081
MSV3drs398124081
GWAS Ctlgrs398124081
Max Magnitude0
ClinVar
Risk rs398124081(-;-)
Alt rs398124081(-;-)
Reference Rs398124081(TTTC;TTTC)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.31366675_31366678delGAAA
CLNSRC HGMD
CLNACC RCV000080822.3,