TABLE 1.

Characteristic of SNPs identified in CGB5 and CGB8 in Estonian and Finnish sample sets

SNP codea	Position relative to ATG	Location	Alleleb major/minor Aminoacid changec	Minor allele frequency in a subsample (%)		population difference p-valued	rs numbere
				Estonian (n=194)	Finnish (n = 185)
Variants in CGB5 genomic region
c5F-447	-812	5′ up-stream	T/G	0	S (Co)	0.304
c5F-399	-764		T/C	0	0.82	0.167
c5EF-322	-687		T/C	0.52	0.82	0.667
c5EF-315	-680		T/G	S (Pa)	1.9	0.071
c5EF-314	-679		C/A	S (Pa)	1.09	0.234
c5EF-309	-674		C/T	S (Pa)	1.09	0.234
c5EF-306	-671		T/G/C	S (Pa)	2.45	0.037
c5EF-291	-656		C/T	21.65	17.66	0.162	rs4801789
c5F-204	-569		A/G	0	1.36	0.051
c5F-191	-557		T/C	0	1.36	0.051
c5EF-155	-520		G/C	10.57	9.24	0.543
c5EF-147	-512		G/del	10.57	8.7	0.373
c5EF-144	-509		T/C	10.57	10.6	0.989
c5EF-142	-507		T/A	10.57	10.6	0.989
c5EF-82	-447		G/A	1.8	1.63	0.853
c5EF-30	-395		G/C	0.77	1.36	0.429
c5E-28	-393		C/T	1.55	0	0.016
c5EF-1	-366		A/G	S (Co)	S (Co)	0.973
c5E101	-265	5′UTR	C/T	0.52	0	0.166
c5EF138	-228		A/G	12.11	6.76	0.011	rs710899
c5E157	-209		C/T	0.52(Pa)	0	0.166
c5F206	-160		C/T	0	S (Co)	0.305
c5F324	-42		G/A	0	0.54 (Co)	0.146
c5EF345	-21		G/C	22.16	16.76	0.055	rs12610392
c5F354	-12		G/del	0	1.08	0.040
c5E519	154	intron1	G/T	0.52	0	0.166
c5E525	160		A/G	0.52	0	0.166	rs35621293
c5E527	162		G/A	0.52	0	0.166
c5E529	164		G/A	S (Pa)	0	0.328
c5EF544	179		T/G	33.25	25.68	0.024	rs3956245
c5E551	186		C/T	0.77	0	0.089	rs4002422
c5F553	188		T/C	0	0.54 (Co)	0.146
c5EF580	215		G/A	21.65	17.03	0.104	rs34524624
c5F660	295		A/C	0	S (Pa)	0.305
c5EF666	301		C/T	32.73	25.41	0.027	rs35871536
c5EF789	424	exon2	G/A p.Pro24Pro	21.13	17.03	0.148	rs35133942
c5E912	547	intron2	G/C	0.77	0	0.089
c5E918	553		C/G	0.52	0	0.166	rs33933429
c5EF1038	673		C/T	11.86	10.81	0.651	rs34335161
c5EF1069	704		A/G	1.55	2.43	0.376	rs33976607
c5F1111	746		A/T	0	0.54 (Co)	0.146
c5EF1115	750		C/T	3.35	0.54	0.005	rs34935416
c5F1178	813	exon3	G/C p.Val76Leu	0	S (Pa)	0.305
c5EF1258	893		C/T p.Tyr102Tyr	4.64	0.81 (Co)	0.001	rs35756580
c5E1390	1025		C/A p.Pro146Pro	S (Co)	0	0.328
c5EF1402	1037		T/C p.Ser150Ser	S (Co)	S (Pa)	0.973
c5EF1426	1061		G/A p.Ser158Ser	S (Co)	S (Pa)	0.973
c5E1501	1136	3′ down-stream	T/C	S (Pa)	0	0.328
c5EF1660	1295		A/T	1.29	1.08	0.502
Variants in CGB8 genomic region
c8EF-287	-659	5′ up-stream	T/C	26.49	23.85	0.417	rs4801790
c8EF-186	-558		G/T	40.21	39.08	0.754	rs8102901
c8EF-4	-376		T/A	0.52 (Pa)	S (Pa)	0.627
c8EF105	-268	5′UTR	G/C	4.12	0.57 (Co)	0.003	rs34212754
c8EF108	-265		C/T	39.95	39.08	0.808	rs13345685
c8EF301	-72		T/A	5.41	6.32	0.597	rs35930240
c8EF432	60	intron1	A/C	0.52	0.57 (Co)	0.913
c8F461	89		T/C	0	S (Pa)	0.290
c8EF523	151		G/T	S (Co)	0.86 (Pa)	0.264
c8F526	154		T/G	0	S (Co)	0.290	rs2387591
c8EF541	169		G/C	39.69	39.37	0.928	rs13345575
c8F551	179		G/T	0	S (Co)	0.290
c8F558	186		T/C	0	S (Co)	0.290
c8EF673	301		T/C	S (Co)	S (Co)	0.938
c8E806	434	exon2	C/T p.Arg28Trp	S (Pa)	0	0.343
c8EF869	497		G/A p.Val49Ile	2.32	S (Pa)	0.017
c8EF925	553	intron2	G/C	2.06	3.16	0.341	rs2303050
c8EF1045	673		C/T	0.52	1.72 (Co)	0.112	rs33943298
c8EF1076	704		G/A	1.8	2.01	0.836
c8EF1122	750		T/C	1.8	2.01	0.836
c8E1237	865	exon3	C/G p.Pro93Arg	S (Pa)	0	0.343
c8E1418	1046		A/T pArg153Arg	S (Pa)	0	0.343

^aa SNP code includes gene and sample name (e.g.c5=CGB5; E=Estonians, F=Finns), location relative to mRNA start site; GenBank references: NM_033043.1 GI:15451747 for CGB5, NM_033183.2 GI:146229337 for CGB8; non-synonymous changes detected only in patients are underlined

^balleles at the coding strand

^ccoding from ATG including signal protein

^dCochran-Armitage test for trend

^eVariants originally described by Hallast et al., 2005 (19) are highlighted in bold. All variants identified in the current study have been submitted to dbSNP database (http://www.ncbi.nlm.nih.gov/SNP/), accession numbers ss105106983 - ss105107053.

S - singleton SNP; Co - only among fertile women with no miscarriages; Pa - only among RM patients