{{Rsnum
|rsid=1800280
|Gene=DMD
|Chromosome=X
|position=31478233
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.06348
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DMD
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 90.1 | 2.7 | 7.2
| HCB | 90.8 | 5.3 | 3.8
| JPT | 95.4 | 2.8 | 1.8
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 90.8 | 5.3 | 3.8
| CHD | 93.3 | 6.7 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 95.0 | 3.0 | 2.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1800280
|allele=T
|frequency=0.933
|uid=1103673019598
|type=homozygous_SNP
|hugo=DMD
|ensembl gene=ENSG00000198947
|ensembl transcript=ENST00000357033
|sift=TOLERATED
|disease=Defects in DMD are a cause of dilated cardiomyopathy (MIM:302045); also known as X-linked dilated cardiomyopathy (XLCM). Dystrophin mutations may predispose to common sporadic cardiomyopathy cases.
}}

{{ neighbor
| rsid = 1800278
| distance = 76
}}

{{GET Evidence
|gene=DMD
|aa_change=Arg2937Gln
|aa_change_short=R2937Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800280
|overall_frequency_n=8379
|overall_frequency_d=8759
|overall_frequency=0.956616
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=106
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}