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. 2021 Sep 15;10(9):2430. doi: 10.3390/cells10092430

Table 5.

Stage A vs. Stage B: feature importance.

Rank SNPs Type Gene Gene Type Function Expression
Pattern
1 rs1999241 Intron variant GAD2 Protein-coding Major autoantigen in insulin-dependent diabetes Pancreas and brain
2 rs7645985 Intron variant LINC01968 lcRNA 1 N/A Testis and placenta
3 rs6516709 Intron variant APP Protein-coding Neurite growth, neuronal adhesion, and axonogenesis Brain
4 rs6078354 Intron variant LINC00687 lcRNA 1 N/A Testis
5 rs7725201 Stop gained RASGEF1C Protein-coding Guanine nucleotide exchange factor Ubiquitous
6 rs10859918 Intron variant PGAM1P5 Pseudo Pseudogene Ubiquitous
7 rs6110516 Intron variant MACROD2 Protein-coding Removing ADP-ribose from mono-ADP-ribosylated proteins Ubiquitous
8 rs5928104 Intron variant DMD Protein-coding

  1. The DGC 3 bridges the inner cytoskeleton and ECM 4

  2. Involved in DMD 5, BMD 6, or cardiomyopathy

 Ubiquitous
9 rs8084397 Intron variant LOC105372209 and LOC105372210 ncRNA 2 N/A Heart, testis, placenta, and brain
10 Affx-2716217 Upstream variant DOCK1 Protein-coding

  1. Dedicator of the cytokinesis protein

  2. Phagocytosis and cell migration

 Ubiquitous
11 rs201036 Non-coding transcript; intron variant LOC101928047 and LOC101928004 ncRNA 2 N/A Heart, kidney, bone marrow, and fat
12 rs9965164 Non-coding transcript LOC105372208 ncRNA 2 N/A Heart, testis, and placenta
13 rs3813579 Intron variant LOC105371356 ncRNA 2 N/A Liver, testis, kidney, and skin

1 lcRNA: long intergenic non-protein-coding RNA; 2 ncRNA: uncharacterized model non-protein-coding RNA; 3 DGC: dystrophin-glycoprotein complex; 4 ECM: extracellular matrix; 5 DMD: Duchenne muscular dystrophy; and 6 BMD: Becker muscular dystrophy.