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rs398123946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTTGGA;CTTTGGA) 0 common in clinvar
Make rs398123946(CTTTGGA;GG)
Make rs398123946(GG;GG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32448457
GeneDMD
is asnp
is mentioned by
dbSNPrs398123946
ebirs398123946
HLIrs398123946
Exacrs398123946
Varsomers398123946
Maprs398123946
PheGenIrs398123946
hapmaprs398123946
1000 genomesrs398123946
hgdprs398123946
ensemblrs398123946
gopubmedrs398123946
geneviewrs398123946
scholarrs398123946
googlers398123946
pharmgkbrs398123946
gwascentralrs398123946
openSNPrs398123946
23andMers398123946
23andMe allrs398123946
SNP Nexus

SNPshotrs398123946
SNPdbers398123946
MSV3drs398123946
GWAS Ctlgrs398123946
Max Magnitude0
ClinVar
Risk rs398123946(GG;GG)
Alt rs398123946(GG;GG)
Reference rs398123946(CTTTGGA;CTTTGGA)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32466574_32466580delTCCAAAGinsCC
CLNSRC ClinVar
CLNACC RCV000080595.4, RCV000176739.1, RCV000176740.1,