Table 2.

Minor allele frequencies of the 23 SNPs detected in the PI3 gene.

	Location
GenBank entry positiona	ntb	region	Non-synonymous substitution	MAF	rs number	MAF in dbSNP
48460A>G	-1077	promoter		0.107
48470A>G	-1067	promoter		0.107
48474G>A	-1063	promoter		0.121
48577T>Del	-960	promoter		0.103
48626G>A	-911	promoter		0.009
48669C>G	-868	promoter		0.138	2267863
48848C>G	-689	promoter		0.107
48862C>T	-675	promoter		0.107
49084T>G	-453	promoter		0.005
49199G>A	-338	promoter		0.107
49279A>G	-258	promoter		0.005
49586C>T	+50	exon 1	T17M	0.107	17333103	0.169
49681C>A	+145	IVS 1		0.107	17333180	0.169
49698T>A	+162	IVS 1		0.455	1983649	0.471
49940C>G	+404	IVS 1		0.083c
49944C>T	+408	IVS 1		0.125c
50105C>G	+569	IVS 1		0.146c	16989785	0.056
50163A>G	+627	IVS 1		0.146c	17424356	0.169
50287T>A	+751	IVS 1		0.063c	6032040	0.176
50495A>C	+959	exon 2	T34P	0.125c	2664581	0.156
50659C>T	+1123	exon 2		0.020c
50762C>A	+1226	IVS 2		0.125c
50770C>A	+1234	IVS 2		0.125c	17424474	0.152

^aGenBank accession No. AL049767.12.

^bLocation is with respect to translation start site.

^cFrequency estimated from 24 unrelated individuals.