Polymorphisms and variants

Position	Position of mRNA	Position of genomic DNA	Variation	Number of patients analysed			Number of X chromosomes tested			Frequency of nucleotides %		Publication	dbSNP/ HapMap links
Position	Position of mRNA	Position of genomic DNA	a/b	a	b	n	a	b	n	a	b	Publication	dbSNP/ HapMap links
Exon 11	1086	62838	t/c									Saha et al. Mol Med 1997 Jul 3:7 477-85	rs5991926
Exon 15	1626	65351	c/g	1	41	42				2	98	Jin et al. Hum Mol Genet 1995 Apr 4:4 693-700
Exon 18	2031	68273	c/t	28	8	36				78	22	Bradley et al. Hum Mol Genet 1994 Jan 3:1 79-83	rs3027647
Exon 18	2031	68273	c/t	2	2	4				50	50	Gaspar et al. Hum Mol Genet 1995 Apr 4:4 755-7	rs3027647
Exon 18	2031	68273	c/t	55	61	116				47	53	Hashimoto et al. Blood 1996 Jul 15 88:2 561-73	rs3027647
Exon 18	2031	68273	c/t	4	1	5				80	20	de Weers et al. Hum Mol Genet 1994 Jan 3:1 161-6	rs3027647
Exon 18	2031	68273	c/t									Conley et al. Hum Mol Genet 1994 Oct 3:10 1751-6	rs3027647
Exon 18	2031	68273	c/t									Schuster et al. Am J Med Genet 1996 May 3 63:1 318-22	rs3027647
Exon 18	2031	68273	c/t									Jin et al. Hum Mol Genet 1995 Apr 4:4 693-700	rs3027647
Exon 18	2031	68273	c/t									Saha et al. Mol Med 1997 Jul 3:7 477-85	rs3027647
Exon 18	2031	68273	c/t									Vorechovsky et al. Hum Mol Genet 1995 Jan 4:1 51-8	rs3027647
Exon 18	2031	68273	c/t	19	4	23						Katz et al. Leukemia 1994 Apr 8:4 574-7	rs3027647
Exon 18	2031	68273	c/t	24	3	27						Ritis et al. Br J Haematol 1998 Sep 102:5 1241-8	rs3027647
Downstream	2228	71708	a/c									Jin et al. Hum Mol Genet 1995 Apr 4:4 693-700	rs700
Downstream	2228	71708										Vorechovsky et al. Hum Mol Genet 1995 Jan 4:1 51-8	rs700
Downstream	2252	71732	g/a	1	41	42				2	98	Jin et al. Hum Mol Genet 1995 Apr 4:4 693-700	rs1057388
Downstream	2304	71784	a/g				33	14	47	70	30	Jin et al. Hum Mol Genet 1995 Apr 4:4 693-700	rs1057403
Intron 2+11		46348	c/t	63	2	65				97	3	Saha et al. Mol Med 1997 Jul 3:7 477-85
Intron 8+70		60977	t/c				39	2	41	95	5	Hagemann et al. Hum Mutat 1995 5:4 296-302
Intron 8+70		60977	t/c	2								Lester, unpublished data
Intron 8+78		60985	g/a				29	12	41	71	29	Hagemann et al. Hum Mutat 1995 5:4 296-302	rs2855259
Intron 8+78		60985	g/a	2								Lester, unpublished data	rs2855259

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