Table 4. The transition/transversion (Ts/Tv) ratio by SNP consequence.

Consequence	N	Ts/Tv
		Iceland	Tennessen et al. 5	Stubbs et al. 26	Impact
The Icelandic ratios are based on the SNPs found in the 2,636 whole-genome sequenced Icelanders and compared to previously reported ratios5,26.
splice acceptor	539	1.59	1.69	2.42	LoF
splice donor	783	1.86		2.81	LoF
stop gained	2,269	2.15	2.13	1.93	LoF
stop lost	100	0.89			LoF
initiator codon	269	2.16			LoF
missense	108,568	2.36	2.31	2.14	MODERATE
splice region	14,107	2.90			MODERATE
synonymous	71,215	5.42	5.60	5.20	LOW
stop retained	68	Inf*			LOW
3′UTR	164,852	2.39		2.15	LOW
5′UTR	32,275	1.72			LOW
intronic	7,299,496	2.29		2.22	OTHER
downstream of gene	422,534	2.33			OTHER
upstream of gene	493,094	2.12			OTHER
Other intergenic	10,950,712	2.13		2.07	OTHER

*The Ts/Tv ratio is infinite for the stop retained class by definition. Table reproduced from Supplementary Table 4 of ref. 13.