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

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

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

Please see Additional file 1 for chromosomal position, reference and alternative alleles, and depth of coverage

ISSN: 1755-8794