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rs5030730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030730(C;T)
Make rs5030730(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32438372
GeneDMD
is asnp
is mentioned by
dbSNPrs5030730
ebirs5030730
HLIrs5030730
Exacrs5030730
Varsomers5030730
Maprs5030730
PheGenIrs5030730
hapmaprs5030730
1000 genomesrs5030730
hgdprs5030730
ensemblrs5030730
gopubmedrs5030730
geneviewrs5030730
scholarrs5030730
googlers5030730
pharmgkbrs5030730
gwascentralrs5030730
openSNPrs5030730
23andMers5030730
23andMe allrs5030730
SNP Nexus

SNPshotrs5030730
SNPdbers5030730
MSV3drs5030730
GWAS Ctlgrs5030730
Max Magnitude0
OMIM300377
Desc
Variant0077
Relatedalso
ClinVar
Risk rs5030730(T;T)
Alt rs5030730(T;T)
Reference rs5030730(C;C)
Significance Pathogenic
Disease Becker muscular dystrophy not provided Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Becker muscular dystrophy not provided Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32456489G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012034.17, RCV000183404.1, RCV000201024.1,