TABLE 3

The common haplotypes and diplotypes for the 16 iris color genes discussed in the text

Sequence IDHaplotypes of 16 genesaAgonistb chi-square PAgonistb colorAntagonistb chi-square PAntagonistb colorCountc
AIM (MATP) 5p13.3
1CAC0.0010Blue0.004Brown(1641)
2T G T0.048Brown0.003Blue(33)
3TAC(23)
ASIP 20q11.2–q12
1ATA(979)
2ATG(508)
3GCG(196)
4ACA0.017Hazel(13)
DCT 13q32
1CTGACA(625)
2CTCACA0.014Hazel0.028Blue(242)
0.016Blue0.021Brown
3TCGACA0.048Green0.003Hazel(281)
4CTCGTA(320)
5CTGACG(179)
MC1R 16q24.3
1TCC0.016Green(152)
2CCC0.026Green(1294)
3CCT(143)
4CTC(113)
MYO5A 15q21
1CGATCGGCCC0.000Green(51)
2CGATCAGCCC(858)
4GTGCTGATCC0.008Blue(163)
5CGATCAACCC0.017Blue(40)
6GTACTGATCC(117)
8CGACTGGTTT(165)
10CGACCAGCCC0.003Brown(40)
13CTACTGGTTT(71)
14CGATTAGCCC0.027Blue(40)
16CGGCCAATCC(19)
OCA2 15q11.2–q12
1GGGGACGGCAAAG0.002Blue0.01Brown(44)
2GAGGCCGGCAAGA0.018Hazel0.031Blue(43)
0.022Brown
3GAGGCCAGCAAGA0.042Green0.026Blue(21)
4GAGGCCGGCAAAA0.024Brown0.014Blue(89)
7GAGGCCAGCAAAA(13)
15TGGGACGCTAAAG(17)
19GAGGCCAGCGAGA0.019Brown(23)
22GAGGCCGGCGAAA0.036Green0.012Blue(15)
25TAAGCCAGCGAAA(13)
37GGAAATAGCAAAA<0.001Blue<0.001Brown(508)
38GGAAATAGCGAAA0.025Blue0.011Brown(200)
39GGAAATAGCAAGA0.039Brown(71)
41GGAAATAGCAGAA(19)
42GGAAATAGCGAGA0.029Blue0.021Brown(174)
45TGAAATAGCGAAA<0.001Brown0.007Blue(65)
47TGAAATAGCGAGA0.003Brown0.006Hazel(22)
0.036Blue
48TGAAATAGCAAAA0.001Brown0.015Green(35)
57TGAAATAGCAAGA(30)
POMC 2p23.3
1T(1187)
2C(515)
2/2C/C0.043Blue
SILV 12q13–q14
1TC(913)
2CC(296)
3TT(490)
1/1TC/TC0.035Blue
TYR11q14–q21
1GCG0.01Green(184)
2AAG(257)
3GCA(467)
4AAA(231)
5ACA(254)
6ACG(189)
7GAG(83)
8GAA0.023Blue(37)
TYRP1 9p23
1TTTTCG0.007Blue<0.001Brown(968)
2CTTTTT(86)
3CTGACG0.006Brown(454)
4CCGACG0.046Brown0.029Blue(98)
5TTGTCG(23)
7CTTACG(24)
CYP1A2-15q22–ter
1G0.015Brown0.023Hazel(769)
2C0.023Hazel0.015Brown(933)
CYP1B1-2p21
1CC(957)
2TT0.027Hazel0.025Blue(403)
3CT(337)
CYP2C8-10q23
1CAA0.007Brown(539)
2TAG(201)
3TGA0.039Brown(513)
4TAA(439)
CYP2C9-10q24
1T0.023Brown0.039Green(1325)
2C0.039Green0.023Brown(377)
GSTT2-22q11.23
1AG(821)
2GA(778)
3AA(99)
AG/AG0.040Green(184)
AG/GA0.013Hazel(401)
MAOA-Xp11.4–11
1CG0.027Blue(1133)
2TA0.006Blue0.026Hazel(480)
3CA(87)
  • a Sequences of the highest order of complexity within a locus found to be associated with iris colors. All of the major sequences (count ≥13) for each locus with at least one significantly associated sequence are shown. If no haplotypes or diplotypes for a locus were found to be associated, only the SNP alleles are shown. If no haplotypes were found to be associated for a locus but diplotypes were found to be associated, both the haplotypes and the diplotypes are shown.

  • b Agonist color refers to the color with which the sequence is positively associated. Antagonist color refers to the color with which the sequence is negatively associated. Chi-square P value is shown.

  • c Number of times the haplotype was observed in our sample of 851.