. Author manuscript; available in PMC: 2008 Oct 1.

Published in final edited form as: Eur J Hum Genet. 2007 Jan 31;15(4):463–472. doi: 10.1038/sj.ejhg.5201783

Table 4.

Details of those variants most likely to have a functional effect based on the bioinformatics analyses performed.

	Site Disrupted/Created
Variant	ESE Abolished	Novel Acceptor Site Created
Variant	ESE Abolished	Start position	Sequence^a	End position
rs1164957	2 SF2/ASF motifs
rs1494550 (SNP 5)		24160423	AG	24160424
n20 (SNP 6)		24174105	CT	24174106
rs2021512		24174976	AGTTT	24174980

The position of the indicated variant is shown in bold. This is not shown for SNP6 because the nucleotide is deleted. The splice-site dinucleotide is underlined.