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. Author manuscript; available in PMC: 2014 Jan 1.
Published in final edited form as: Ann Hum Genet. 2012 Nov 6;77(1):9–21. doi: 10.1111/j.1469-1809.2012.00736.x

Table 7.

The distribution of mtDNA SNPs between ASD Cases and Controls in the Phase 3 resequencing dataset

*Total sites possible Cases Controls χ2 P-value
Total observed Per individual (N = 379) **Total mutational burden Total observed Per individual (N = 372) **Total mutational burden
Sequence variants1 16, 010 20085 53.0 0.0033 18435 49.6 0.0031 NS
“n” SNPs 16, 010 13153 34.7 0.0022 11566 31.1 0.0019 NS
Homoplasmic SNPs2 16, 010 6932 18.3 0.0011 6869 18.5 0.0012 NS
Potential heteroplasmic SNPs3 16, 010 14221 37.5 0.0023 12610 33.9 0.0021 NS
Heteroplasmic SNPs4 16, 010 1068 2.8 0.0002 1044 2.8 0.0002 > 0.05
**

rCRS probes to 16, 544 positions, 534 of which failed the 95% call rate threshold using the diploid algorithm

*

Total mutational burden = total variants observed/(total sites possible x N of cases or controls)

1

Homoplasmic SNPs and n calls

2

IUPAC codes “a”, “c”, “g”, “t”

3

IUPAC codes “r”, “y”, “k”, “m”, “s”, “w”, “n”

4

IUPAC codes “r”, “y”, “k”, “m”, “s”, “w”