Table 3.

OCA2 SNP Association with Blue Eye Color

	Allele Frequency
Location and dbSNP Number	A1a	A2b	No. Typed	LRTSc	Pc
Intron 1:
rs7495174	.94 T	.06 C	3,066	274.81	1.02×10−61
rs6497268	.83 G	.17 T	3,057	434.66	1.57×10−96
rs11855019	.87 T	.13 C	3,023	239.76	4.45×10−54
rs4778137	.71 G	.29 C	2,923	21.14	4.27×10−6
Intron 2:
rs7179994	.86 T	.14 C	3,033	55.73	8.32×10−14
rs1448481	.91 A	.09 G	3,030	4.09	.04
rs1597196	.82 C	.18 A	3,067	74.09	7.46×10−18
rs1375164	.78 G	.22 A	3,057	94.11	2.98×10−22
rs1448485	.86 C	.14 A	3,030	82.75	9.31×10−20
rs7176759	1.00 G	.00 C	3,066	6.05	.014
Intron 3:
rs2290100	.97 A	.03 G	3,031	4.54	.03
Intron 4:
rs3794604	.90 G	.10 A	3,041	61.11	5.39×10−15
Intron 5:
IVS5-53 C/G	.99 C	.01 G	3,057	3.48	.06
Intron 6:
rs2871875	.75 C	.25 T	3,058	27.7	1.42×10−7
Pro241Arg/exon 7:
rs2305253	1.00 C	.00 G	3,057	3.82	.05
Arg290Gly/exon 8:
Arg290Gly	1.00 A	.00 G	3,034	.94	.33
Arg305Trp/exon 9:
rs1800401	.95 C	.05 T	3,074	.04	.84
Intron 9:
rs4640131	.95 T	.05 C	3,067	0	.96
rs2015343	.77 C	.23 T	3,055	33.48	7.21×10−9
Ala355Ala/exon 10:
rs1800404	.77 A	.23 G	3,053	33.64	6.64×10−9
Gly371Gly/exon 10:
rs1800405	.99 C	.01 T	3,034	.24	.62
Val380Met/exon 11:
Val380Met	1.00 G	.00 A	3,071	6.78	.01
IVS11-4 A/G/intron 11:
rs10852218	.81 G	.19 A	3,054	42.54	6.92×10−11
Arg419Gln/exon 13:
rs1800407	.91 G	.09 A	3,022	38.69	4.96×10−10
Val443Ile/exon 13:
rs28934272	.99 G	.01 A	3,071	.01	.92
Intron 13:
rs1800410	.87 A	.13 G	3,027	5.85	.02
Ala481Thr /exon 14:
Ala481Thr	1.00 G	.00 A	3,056	1.49	.22
Intron 14:
rs7497034	.68 C	.32 T	3,061	5.99	9.30×10−13
rs4778220	.81 T	.19 C	3,056	42.98	5.54×10−11
Cys517Cys/exon 15:
rs1800411	.68 T	.32 C	3,066	51.77	6.24×10−13
Val519Ala/exon 15:
Val519Ala	1.00 T	.00 C	3,059	.54	.46
IVS16-47/intron 16:
rs7170989	.75 G	.25 A	3,046	76.24	2.51×10−18
Intron 17:
rs728404	.92 G	.08 A	3,055	19.87	8.30×10−6
His615Arg/exon 18:
rs1800414	1.00 A	.00 G	3,067	23.07	1.56×10−6
Intron 18:
rs2311843	.85 G	.15 A	3,065	6.57	.01
rs977589	.45 A	.55 G	3,059	28.13	1.13×10−7
rs977588	.59 T	.41 G	2,925	11.66	.001
Ala686Ala/exon 19:
rs1800416	1.00 A	.00 C	3,063	5.49	.02
Intron 19:
rs2703922	.39 A	.61 G	2,876	17.35	3.11×10−5
rs2594902	.96 T	.04 C	3,049	28.95	7.44×10−8
rs2703969	.69 T	.31 A	2,993	13.34	.000
Ile722Thr/exon21:
rs1800417	1.00 T	.00 C	3,065	.6	.44
Ser736Ser/exon21:
rs1800418	1.00 G	.00 A	3,036	3.28	.07
Intron 21:
rs7175046	.30 C	.70 G	3,048	31.77	1.73×10−8
rs1973448	.30 C	.70 T	3,047	33.49	7.17×10−9
rs4778200	.75 C	.25 T	3,003	2.97	.08
rs1004611	.61 C	.39 T	3,027	2.15	.14
Ala776Ala/exon 22:
rs1800419	.58 T	.42 C	3,058	11.52	6.90×10−4
Ser788Ser/exon 23:
rs12592307	.80 G	.20 A	3,040	9.73	1.81×10−3
Intron 23:
rs4778190	.34 A	.66 G	3,046	42.29	7.87×10−11
rs4778185	.45 A	.55 T	3,049	18.2	1.99×10−5
rs1498521	.40 T	.60 C	3,040	15.23	9.53×10−5
rs1874835	.12 A	.88 C	3,064	5.77	.02
rs17673969	.06 C	.94 A	3,066	18.18	2.01×10−5
rs3947367	.30 G	.70 A	3,033	3.36	.07
rs4778177	.87 G	.13 A	3,037	12.61	3.80×10−4
rs1498519	.37 A	.63 C	3,018	19.85	8.37×10−6
rs989869	.60 A	.40 G	2,924	1.86	.17

^aAllele frequency associated with blue/gray eye color in this study.

^bAllele frequency associated with nonblue eye color in this study.

^cLikelihood-ratio test (MENDEL 6.01) for association between SNP and blue eye color.