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Table 1 Somatic variants may initiate tumor development

From: Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

SNP ID Gene Chrs Gene Region Function Cancer-promoting gene Diseases
rs188382333 ABCA6 17 exonic nonsynonymous SNV Y Colorectal cancer, acute myeloid Leukemia
rs201064036 C6 5 exonic nonsynonymous SNV Y C6 deficiency
rs79930314 CCDC144NL 17 exonic Stop gain N Colorectal cancer; Renal cancer
rs41291550 CYP2C18 10 exonic Stop gain N NA
rs1799931 NAT2 8 exonic nonsynonymous SNV N Slow acetylation
rs192410865 NOX3 6 exonic Stop gain N NA
NM_000438:exon2:c.232G>A:p.V78M PAX3 2 exonic nonsynonymous SNV Y Alveolar rhabdomyosarcomas, type1 and type3 Waardenburg syndrome
rs138133378 SCN7A 2 exonic nonsynonymous SNV N NA
rs117153533 TC2N 14 exonic nonsynonymous SNV N Colorectal cancer,
rs201277886 TOX 8 exonic nonsynonymous SNV N Colorectal cancer, virus-associated hepatocellular cancer, gastric cancer, esophageal cancer
  1. Each SNP was searched in the following databases to confirm its correlation with diseases and whether it belongs to a cancer-promoting gene: ClinVar, ICGC, COSMIC, HGMD and OMIM