A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing

Table 1 Comparison of sdSNP properties between ASEs and CSEs

Properties of sdSNP	on ASEs		on CSEs
Heterozygosity¹⁾	0.24	(S.E. 0.03)	0.19	(S.E. 0.03)
SNP density²⁾	0.030%		0.037%
#HITs accordance with GT-AG rule³⁾	35/47	(74%)	100/175	(57%)
Splice score with matched allele⁴⁾	8.534	(S.E. 0.454)	7.835	(S.E. 0.600)
Splice score Δ two alleles⁵⁾	8.225	(S.E. 0.087)	8.235	(S.E. 0.128)

1) Average heterozygosity of sdSNPs.
2) Density of SNPs in splice dinucleotides. Note that the SNP density in intron regions is 0.139%.
3) Number of transcripts whose splice sites satisfy the GT-AG rule with the predicted allele/number of transcripts performed allele prediction assuming LD with the nearest cSNP. See Process 5 in Figure 2.
4) Average score of splice sites with the predicted alleles meeting the GT-AG rule. Splice scores were calculated using the MaxEnt program.
5) Average differences in score between the two splice sites from the two alleles of each sdSNP.

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