Table 2 All the missense SNPs with global MAF of ≧0.001 in DNASE1 examined; genetic distribution, activity, effect of the corresponding amino acid substitution on the activity, and prediction of the effect using PolyPhen-2 and PredictSNP.

SNPs	Global MAF^a	Genetic heterogeneity^b	Activity^c	Effect^d	Prediction by
SNPs	Global MAF^a	Genetic heterogeneity^b	Activity^c	Effect^d	PolyPhen-2	PredictSNP
rs1053874 p.Gln244Arg; c.731 A > G	0.494	polymorphic	0.48 ± 0.015*	reducing	benign	neutral
rs8176927 p.Arg2Ser; c.6 G > T	0.038	only African	1.17 ± 0.17	not affecting	benign	neutral
rs8176919 p.Gly127Arg; c.379 G > A	0.022	only African	2.11 ± 0.52	elevating	damaging	deleterious
rs1799891 p.Pro154Ala; c.460 C > G	0.006	only Japanese^e	1.43 ± 0.25	not affecting	benign	neutral
rs8176928 p.Arg107Gly; c.319 A > G	0.004	mono-allelic	n.d.	abolishing	probably damaging	deleterious
rs34923865 p.Tyr117Ser; c.350 A > C	0.004	only Caucasian	1.02 ± 0.26	not affecting	probably damaging	deleterious
rs148373909 p.Arg207Cys; c.619 C > T	0.004	only Japanese^e	0.12 ± 0.022*	reducing	probably damaging	deleterious
rs34907394 p.Glu35Asp; c.105 G > C	0.002	mono-allelic	1.23 ± 0.28	not affecting	benign	neutral
rs144059899 p.Asp129Asn; c.385 G > A	0.002	mono-allelic	1.92 ± 0.81	not affecting	probably damaging	deleterious
rs77254040 p.Gln31Glu; c.91 C > G	0.001	only Japanese^e	0.43 ± 0.10*	reducing	benign	neutral
rs59621760 p.Asp167Glu; c.501 C > G	0.001	mono-allelic	1.17 ± 0.15	not affecting	possibly damaging	deleterious
rs74892550 p.Val185Ile; c.553 G > A	0.001	mono-allelic	1.49 ± 0.36	not affecting	benign	neutral
rs34186031 p.Pro219Ser; c.655 C > T	0.001	mono-allelic	1.13 ± 0.29	not affecting	benign	neutral

^aTaken from the Ensembl database (http://asia.ensembl.org/Homo_sapiens/).
^bGenetic heterogeneity for each of SNP in our study populations are shown.
^cThe values are expressed as relative activity of each amino acid-substituted construct in the cell lyzates to that of the wild-type, representing the mean ± SD (n = 4); n.d., the activity derived from the corresponding amino acid substituted construct could not be detected under our assay conditions. The asterisks show the activity significantly reduced compared to that of the wild type.
^dThe activity of each DNase I isoform was compared with that of the wild type using unpaired Student’s t test; differences at p < 0.05 were considered to be statistically significant. Based upon the significant effect on the activity, SNPs could be classified into 4 categories.
^eThe corresponding minor alleles of each SNP were found in the other Japanese population recruited in the previous studies¹³.

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