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. Author manuscript; available in PMC: 2013 Nov 1.
Published in final edited form as: Trends Cardiovasc Med. 2012 Aug 24;22(8):219–223. doi: 10.1016/j.tcm.2012.08.001

TABLE 1.

DNA Sequence Variants in the Human Genome

Nucleotides (base pairs) 3.2 × 109
Protein-coding genes 23,500
Number of exons 180,000
Size of exome (base pairs) 30 × 106
DNA Sequence variants (DSVs) 4 ×106
Single nucleotide polymorphisms (SNPs) 3.5 ×106
Structural variants (SVs)/Copy number variants (CNVs) 104 – 105
Non-synonymous SNPs (nsSNPs) 10,000–12,000
NsSNP potentially damaging 100s-1,000s
Loss-of-function (loF) variants 120
Homozygous LoF variants 20
Variants known to be associated with inherited diseases 50–100
Stop-codon variants 25–35
Homozygous stop codon variants 2–3
De novo variants 30