Table 3

Potentially causal exonic SNPs

SubgroupMapped genesMost significant SNPSNP in LDSNP locationAmino acid changePolyPhen-2/SIFTphastCons17-way
IIM+PMPTPN22rs2476601rs2476601Non-synonymous coding in PTPN22R620WBenign/tolerated0.99
IIMDGKQrs6599390rs3796622Non-synonymous coding SLC26A1Q556RBenign/tolerated0.35
PMUBE3B|MMABrs7956536rs7298565Non-synonymous coding UBE3BR346QBenign/tolerated1
rs9593Non-synonymous coding in MMABM239KBenign/tolerated0.17
DM+JDMGSDMBrs1008723rs11078928Splice acceptor variant in GSDMB0
rs2305480Non-synonymous coding GSDMBP298SPossibly damaging/Tolerated0
rs2305479Non-synonymous coding GSDMBG291RProbably damaging/Tolerated0
  • SNPs investigated for functionality may be the lead association or any SNP with r2≥0.9. PolyPhen-213 and SIFT,14 was used to predict the possible impact of an amino acid substitution. phastCons17-way,15 gives a score of evolutionary conservation in 17 vertebrates, with 1 being the most conserved at that base position.

  • DM, dermatomyositis; IIM, idiopathic inflammatory myopathy; JDM, juvenile dermatomyositis; PM, polymyositis.