{{Rsnum
|rsid=1800278
|Gene=DMD
|Chromosome=X
|position=31478309
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.03869
|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 | 99.1 | 0.0 | 0.9
| HCB | 95.5 | 3.0 | 1.5
| JPT | 97.3 | 2.7 | 0.0
| YRI | 93.6 | 4.3 | 2.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 95.5 | 3.0 | 1.5
| CHD | 97.2 | 2.8 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 85.7 | 5.7 | 8.6
| MEX | 96.5 | 1.8 | 1.8
| MKK | 88.6 | 5.4 | 6.0
| TSI | 97.1 | 2.0 | 1.0
| HapMapRevision=28
}}
{{omim
|desc=DUCHENNE MUSCULAR DYSTROPHY
|id=300377
|rsnum=1800278
|variant=0062
}}

{{ neighbor
| rsid = 1800280
| distance = 76
}}

[http://www.ncbi.nlm.nih.gov/omim/300377#300377Variants0062 omim] notes that {{PMID|7881286}} links this snp to Duchenne [[muscular dystrophy]], but hapmap frequency makes that seem very unlikely.

{{ClinVar
|rsid=1800278
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=31496426
|CHROM=X
|GMAF=0.0391802
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050160000000150517110100
|GENEINFO=DMD:1756
|GENE_NAME=DMD
|GENE_ID=1756
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.31496426T>C
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=432; 300377.0062
|CLNSIG=5
|CLNCUI=C0013264
|CLNDBN=Duchenne muscular dystrophy; AllHighlyPenetrant
|Disease=Duchenne muscular dystrophy; AllHighlyPenetrant
|CLNACC=RCV000012019.16; RCV000080811.1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9613; 0.03869
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1119:C0013264:310200:98896:76670001; CN169374
|COMMON=1
}}

{{GET Evidence
|gene=DMD
|aa_change=Asn2912Asp
|aa_change_short=N2912D
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800278
|overall_frequency_n=272
|overall_frequency_d=8759
|overall_frequency=0.0310538
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.059
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=5
}}

{{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}}