Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients

Table 3 Frequencies of single nucleotide polymorphisms detected in the glucocorticoid receptor gene (NR3C1)

SNP number	Alternativename1	Variant number2	DNA position3	DNA region	cDNA position4	Nucleotide reference	Nucleotide variant	Amino acid exchange	Allele frequency(n = 362)	Reported allele frequencies2
1	2.1	rs6189	3943266	Exon 2	558	G	A	E22E	0.025	0.002-0.034
2	2.2	rs6190	3943264	Exon 2	560	G	A	R23K	0.025	0.002-0.034
3	2.3	rs72542742	3942647	Exon 2	1177	G	A	A229T	0.003	0.002
4	2.4	rs56149945	3942244	Exon 2	1580	A	G	N363S	0.025	0.000-0.046
5	3.1	rs4986593	3856773	Intron 3		T	C		0.213	0.008-0.228
6	4.1	rs61753484	3852751	Intron 4		G	C		0.006	0.000-0.009
7	5.1	rs6188	3843271	Intron 5		G	T		0.290	0.000-0.500
8	6.1	rs6194	3841288	Exon 6	2256	C	T	H588H	0.006	0.000-0.091
9	8.1	rs258751	3825207	Exon 8	2526	C	T	D678D	0.006	0.000-0.149
10	8.2	novel SNP	3824968	Intron 8		A	G		0.003	NA
11	8.3	rs258750	3824816	Intron 8		T	C		0.307	0.091-0.362
12	8.4	rs10482704	3824690	Intron 8		G	T		0.017	0.000-0.027
13	9.1	rs6196	3824417	Exon 9	2790	T	C	N766N	0.022	0.058-0.325

¹Defines both the exon/intron localization and the single nucleotide polymorphism (SNP) number;

²According to the National Center for Biotechnology Information (NCBI) SNP database;

³According to the NCBI genomic reference sequence NT_029289.11;

⁴According to the NCBI cDNA reference cDNA Sequence NM_000176.2. NA: Not applicable.