{{Rsnum
|rsid = 28930075
|Gene = DES
|geno1 = (A;A)
|geno2 = (A;C)
|geno3 = (C;C)
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|Chromosome=2
|position=219421482
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=121913004
}}{{omim
| id = 125660
| variant = 0011
| desc    = MYOPATHY, DESMIN-RELATED
| rsnum   = 28930075
}}