Skip to main content

Table 4 Example set of SNVs selected from cadaver with diagnosis of Myelodysplastic syndrome

From: The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum

Chr dbSNP Gene 1000G MAF ClinVar Significance ClinVar Annotation
5 rs61748181 TERT 0.014 Pathogenic Aplastic_anemia
17 rs1042522 TP53 0.602 Benign Codon 72 polymorphism/neoplastic syndromes/hereditary
22 rs4680 COMT 0.389 Benign Catechol-o-methyltransferase polymorphism
22 rs1065852 CYP2D6 0.255 Pathogenic Poor metabolism of Debrisoquine
7 rs10246939 TAS2R38 0.549 Pathogenic Phenylthiocarbamide tasting
5 rs16891982 SLC45A2 0.441 - Skin/hair/eye pigmentation variation
11 rs1126809 TYR 0.112 Pathogenic Waardenburg syndrome and ocular albinism
16 rs1805007 MC1R 0.030 Pathogenic Red hair/fair skin/Increased analgesia from kappa-opioid receptor agonist
12 rs41276738 VWF 0.001 Pathogenic Von Willebrand disease
1 rs6025 F5 0.994 - Thrombophilia due to factor V Leiden
  1. Please see Additional file 1 for chromosomal position, reference and alternative alleles, and depth of coverage