Abstract
Keywords
1. Introduction
- Liu F.
- Wollstein A.
- Hysi P.G.
- Ankra-Badu G.A.
- Spector T.D.
- Park D.
- Zhu G.
- Larsson M.
- Duffy D.L.
- Montgomery G.W.
- Mackey D.A.
- Walsh S.
- Lao O.
- Hofman A.
- Rivadeneira F.
- Vingerling J.R.
- Uitterlinden A.G.
- Martin N.G.
- Hammond C.J.
- Kayser M.
- Kayser M.
- Liu F.
- Janssens A.C.
- Rivadeneira F.
- Lao O.
- van Duijn K.
- Vermeulen M.
- Arp P.
- Jhamai M.M.
- van Ijcken W.F.
- den Dunnen J.T.
- Heath S.
- Zelenika D.
- Despriet D.D.
- Klaver C.C.
- Vingerling J.R.
- de Jong P.T.
- Hofman A.
- Aulchenko Y.S.
- Uitterlinden A.G.
- Oostra B.A.
- van Duijn C.M.
2. Materials and methods
2.1 Population samples and phenotyping regimes
2.2 SNP selection, multiplex design and genotyping methods
- Kayser M.
- Liu F.
- Janssens A.C.
- Rivadeneira F.
- Lao O.
- van Duijn K.
- Vermeulen M.
- Arp P.
- Jhamai M.M.
- van Ijcken W.F.
- den Dunnen J.T.
- Heath S.
- Zelenika D.
- Despriet D.D.
- Klaver C.C.
- Vingerling J.R.
- de Jong P.T.
- Hofman A.
- Aulchenko Y.S.
- Uitterlinden A.G.
- Oostra B.A.
- van Duijn C.M.
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Magnusson K.P.
- Manolescu A.
- Karason A.
- Palsson A.
- Thorleifsson G.
- Jakobsdottir M.
- Steinberg S.
- Palsson S.
- Jonasson F.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Jakobsdottir M.
- Steinberg S.
- Gudjonsson S.A.
- Palsson A.
- Thorleifsson G.
- Palsson S.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Vermeulen S.H.
- Goldstein A.M.
- Tucker M.A.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.
- Han J.
- Kraft P.
- Nan H.
- Guo Q.
- Chen C.
- Qureshi A.
- Hankinson S.E.
- Hu F.B.
- Duffy D.L.
- Zhao Z.Z.
- Martin N.G.
- Montgomery G.W.
- Hayward N.K.
- Thomas G.
- Hoover R.N.
- Chanock S.
- Hunter D.J.
- Kayser M.
- Liu F.
- Janssens A.C.
- Rivadeneira F.
- Lao O.
- van Duijn K.
- Vermeulen M.
- Arp P.
- Jhamai M.M.
- van Ijcken W.F.
- den Dunnen J.T.
- Heath S.
- Zelenika D.
- Despriet D.D.
- Klaver C.C.
- Vingerling J.R.
- de Jong P.T.
- Hofman A.
- Aulchenko Y.S.
- Uitterlinden A.G.
- Oostra B.A.
- van Duijn C.M.
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Magnusson K.P.
- Manolescu A.
- Karason A.
- Palsson A.
- Thorleifsson G.
- Jakobsdottir M.
- Steinberg S.
- Palsson S.
- Jonasson F.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Jakobsdottir M.
- Steinberg S.
- Gudjonsson S.A.
- Palsson A.
- Thorleifsson G.
- Palsson S.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Vermeulen S.H.
- Goldstein A.M.
- Tucker M.A.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.
- Han J.
- Kraft P.
- Nan H.
- Guo Q.
- Chen C.
- Qureshi A.
- Hankinson S.E.
- Hu F.B.
- Duffy D.L.
- Zhao Z.Z.
- Martin N.G.
- Montgomery G.W.
- Hayward N.K.
- Thomas G.
- Hoover R.N.
- Chanock S.
- Hunter D.J.
ID | Gene | Position (Ref) | Chr | SNP | Primer forward | Primer reverse | Primer [μM] | Extension primer | Size (bp) | Probe [μM] | Sense | Original reporting publication(s) | Liu rank (top 15) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs1042602 | TYR | 88551344 | 11 | A/C | GGTGCTTCATGGGCAAAATC | TGACCTCTTTGTCTGGATGC | 0.777 | tctctctctctctcCAATGTCTCTCCAGATTTCA | 35 | 0.26 | R | [31] | |
rs26722 | SLC45A2 | 33999627 | 5 | C/T | TTTTTGCTCCCTGCATTGCC | GATGGAATGTACGAGTATGG | 0.518 | ctctctctctctctccTACGTAACCATTTTTAACTTTCT | 40 | 0.26 | F | 10 , 32
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008; 4: e1000074 | |
rs12896399 | SLC24A4 | 91843416 | 14 | G/T | TCTGGCGATCCAATTCTTTG | GATGAGGAAGGTTAATCTGC | 1.295 | tcctctctctctctctctctctctcGGTCAGTATATTTTGGG | 43 | 0.47 | R | 29 ,
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 32
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008; 4: e1000074 | 3 |
rs11636232 | HERC2 | 26060221 | 15 | C/T | ACAGCAAAGAGGGTCTGTTC | GCATTGAAGGCGCAAAAGTC | 0.777 | ctctctctctctctctctctctctctcagTGTTCCCCTCCGATTAA | 47 | 0.38 | F | [14] | |
rs16891982 | SLC45A2 | 33987450 | 5 | C/G | TCTACGAAAGAGGAGTCGAG | AAAGTGAGGAAAACACGGAG | 0.777 | ctctctctctctctctctctctctctcttgaGTTGGATGTTGGGGCTT | 49 | 0.28 | F | 25 , 26 , 27 , 28 | 4 |
rs13289 | SLC45A2 | 33959166 | 5 | C/G | GTGTTAAGTACCACGAGGAG | GTCACACCCTTCTTCAAATC | 0.907 | tctctctctctctctctctctctctctctccttctGAGGAGAAATATCAGGGC | 54 | 0.26 | F | 26 , 28 | |
rs7495174 | OCA2 | 26017833 | 15 | A/G | TAGGTCGGCTCCGTCGCAC | GGCTTAGGAAGCAAGGCAAG | 0.130 | tctctctctctctctctctctctctctctctctCAAGGCAAGTTCCCCTAAAGGT | 56 | 0.09 | R | 11 , 13 , 29
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 | 8 |
rs1805007 | MC1R | 88513618 | 16 | C/T | CTACATCTCCATCTTCTAC | ATGAAGAGCGTGCTGAAGAC | 0.907 | ccccccccctaaactaggtgccacgtcgtgaaagtctgacaaCACGATGCTGTGGTAGC | 60 | 0.26 | R | 28 , 30
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | |
rs1667394 | HERC2 | 26203777 | 15 | A/G | AGACGCAGCAATTCAAAACG | GAGACTTTGAGGTCTCCAAC | 0.648 | tctctctctctctctctctctctctctctctctctctctctctAGCAATTCAAAACGTGCATA | 64 | 0.28 | R | 13 , 14 , 15
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 | 9 |
rs1805008 | MC1R | 88513645 | 16 | C/T | CTACATCTCCATCTTCTAC | ATGAAGAGCGTGCTGAAGAC | 0.907 | cccccccctaaactaggtgccacgtcgtgaaagtctgacaaGCCGCAACGGCTCGCCGCGCCC | 64 | 0.26 | R | [10] | |
rs916977 | HERC2 | 26186959 | 15 | A/G | TTCTGTTCTTCTTGACCCCG | GGTGTGGGATTTGTTTTGGC | 0.130 | tctctctctctctctctctctctctctctctctctctctctctcctctctctAGCCTTGGCCAGCCTTCT | 71 | 0.14 | F | 13 , 14 , 15
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 | |
rs4778138 | OCA2 | 26203777 | 15 | A/G | CCTCCCATCACTGATTTAGC | GAAAGTCTCAAGGGAAATCAG | 0.648 | ccccccccccccccccccctaaactaggtgccacgtcgtgaaagtctgacaaCTGATTTAGCTGTGTTCTG | 72 | 0.26 | R | 12 , 13 | |
rs12203592 | IRF4 | 341321 | 6 | C/T | TTCATCCACTTTGGTGGG | CATATGGCTAAACCTGGC | 0.907 | cccccccccccccccccccactgactaaactaggtgccacgtcgtgaaagtctgacaaTGGTGGGTAAAAGAAGG | 76 | 0.26 | F | [32]
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008; 4: e1000074 | 6 |
rs12913832 | HERC2 | 26009415 | 15 | A/G | CGAGGCCAGTTTCATTTGAG | AAAACAAAGAGAAGCCTCGG | 0.130 | ctctctctctctctctctctctctctctctctctctaattctctctctcttAGGCCAGTTTCATTTGAGCATTAA | 76 | 0.14 | F | 13 , 14 | 1 |
rs3782974 | DCT | 93890897 | 13 | A/T | ACCAAAAAATGAAATCCAC | CCCACATGATAAATCCAATC | 1.295 | tctctctctctctctctctctctctctctctctctctctctctctctctctctctctATCCACTAATTTTGTGGAAGAG | 80 | 0.47 | F | 25 , 26 | |
rs12592730 | HERC2 | 26203954 | 15 | A/G | AAGACAGAAAAGCTGCCAAG | GGATGCTTGAACAGATTATG | 0.777 | tctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctaTGGATCCAATCAAAATTTACA | 84 | 0.26 | F | [14] | 7 |
rs4778241 | OCA2 | 26012308 | 15 | A/C | AGGAGTGCAATTGTTGGCTG | TGTACAGCCACTCTGGAAAG | 0.065 | tctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctAATTGTTGGCTGGTAGTTGCAATT | 88 | 0.05 | R | 12 , 15
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 |
ID | Gene | Position (Ref) | Chr | SNP | Primer forward | Primer reverse | Primer [μM] | Extension primer | Size | Probe [μM] | Sense | Original reporting publication(s) | Liu rank (top 15) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs1015362 | ASIP | 32202273 | 20 | AG | CCTTAAGTGTGTACTGTGTG | CTGAACAAATAGTCCCGACC | 0.368 | tctctctctctcaTGTGTGTCTGAAACAGT | 31 | 0.190 | F | 16 , 29 ,
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 30
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | |
rs1805005 | MC1R | 88513345 | 16 | GT | AGGTGTCCATCTCTGACGG | ACATGGGTGAGTGCAGGTTC | 0.674 | ctctctctctctctctctccGGTGGAGAACGCGCTGGTG | 40 | 0.276 | F | [10] | |
rs7183877 | HERC2 | 26039328 | 15 | AC | GCCGAGGCTTCTCTTTGTTT | CTGTCTCATGGGTAGTAATC | 0.490 | tctctctctctctcctAAGCAGTATACATTTAGAAATGGT | 41 | 0.190 | F | [15]
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 | 10 |
rs1408799 | TYRP1 | 12662097 | 9 | CT | TAGCACATTGTCTGGCTCGG | ATCAAAACTGGTTCATCCAC | 0.674 | tctctctctctctctctctctctctctcCTCGGAGCACATGGTCA | 46 | 0.207 | R | [30]
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | 12 |
rs1540771 | IRF4-EXOC2 | 411033 | 6 | AG | ATGGTAGAAGAGAGAGGAGG | ACCACACACGTGATAGACTG | 0.797 | tctctctctctctctctctctctctcctTGAACTGCACGAGTTGG | 46 | 0.241 | R | [29]
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 | |
rs4911414 | ASIP | 32193105 | 20 | GT | CCCCAGTCTCTTTTTGTTTG | GGCAACTAGAGAAAAGCATC | 0.245 | ctctctctctctctctctctctctctcGTCTTTGCTGAGAAATTCATT | 49 | 0.172 | F | [30]
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | |
rs1126809 | TYR | 88657609 | 11 | AG | AATGGGTGCATTGGCTTCTG | CCTCTGCAGTATTTTTGAGC | 0.306 | ctctctctctctctctctctctctctctctctctcGAAGAGGACGGTGCCTT | 53 | 0.190 | R | [30]
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | |
rs1393350 | TYR | 88650694 | 11 | AG | GGAAGGTGAATGATAACACG | TACTCTTCCTCAGTCCCTTC | 0.306 | ctctctctctctctctctctctctctctctctctcAGTCCCTTCTCTGCAAC | 53 | 0.069 | F | [29]
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 | 5 |
rs4778232 | OCA2 | 25955360 | 15 | CT | AAGAACCAAGGGATCTAGGG | CATGTCAGACTGTGAGATGG | 0.429 | ctctctctctctctctctctctctctctctctctctctGGATCTAGGGATGAGGAA | 57 | 0.207 | R | [15]
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 | 11 |
rs35264875 | TPCN2 | 68602975 | 11 | AT | CGTCTTCATTGTGTACTACC | CGTCAAACACGTTGCTGGG | 0.797 | cccaactgactaaactaggtgccacgtcgtgaaagtaaaggGTGTACTACCTGTTGGAG | 60 | 0.310 | F | 13 , 30
Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 2008; 40: 835-837 | |
rs8024968 | OCA2 | 25957284 | 15 | AG | ACTTCACCTTGGTGCCTTAG | TAGAGTCACAGAACAGGGAG | 0.490 | ctctctctctctctctctctctctctctctctctctctctctctaatCCCATAATCTCTTTCCTGA | 67 | 0.190 | F | [15]
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008; 82: 411-423 | 13 |
rs1800407 | OCA2 | 25903913 | 15 | AG | ATGATGATCATGGCCCACAC | ACTCTGGCTTGTACTCTCTC | 0.735 | tctctctctctctctctctctctctctctctctctctctctctcctcctctCATGGCCCACACCCGTCCC | 71 | 0.310 | R | [13] | 2 |
rs1129038 | HERC2 | 26030454 | 15 | AG | CTTCTCATCAGACACACCAG | TCGTGAGATGAGAGCCTGAG | 0.429 | ctctctctctctctctctctctctctctctctctctctctctctctctctctctcccGAGCCAGGCAGCAGAGC | 75 | 0.190 | F | 11 , 13 , 14 | |
rs1805009 | MC1R | 88514047 | 16 | CG | TTTCTCGCCCTCATCATCTG | TCAGCACCTCCTTGAGCGTC | 0.490 | ccccaactgactaaactaggtgccacgtcgtgaaagtaaactTCTGCAATGCCATCATC | 60 | 0.241 | F | [29]
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 | |
rs6058017 | ASIP | 32320659 | 20 | AG | AGCCGCCCTGTTAGGGATCA | TCAGCCTCAACTGCTGAGCG | 0.674 | ctctctctctctctctctctctctctctctctctctctctctctctctctctctctcTCCCCACTCCCGGCCGCGAGC | 79 | 0.241 | F | [10] | 14 |
rs6867641 | SLC45A2 | 34021614 | 5 | CT | AACGATCACACACGGCTTCT | GTAATAACGAGAAAAGCCCC | 0.490 | tctctctctctctctctctctctctctctctctctctctctctctctctctctctctctaaACACGGCTTCTCTCTCA | 79 | 0.207 | F | [27] | |
rs1375164 | OCA2 | 25965407 | 15 | CT | ATAGGTACCCTGTCCTGTTG | TAGAGGTCATATCCCAGGGC | 0.613 | tctctctctctctctctctctctctctctctctctctctctctctcctctctctctctctctcttCTGTCCTGTTGTTGTCA | 83 | 0.241 | R | 9 , 10 , 12 | |
rs3829241 | TPCN2 | 68611939 | 11 | AG | TCCACAGGGATATTCTGGAG | TGCTGGCTCCAGCCTCTCTGT | 0.368 | tctctctctctctctctctctctctctctctctctctctctctctcctctctctctctctctaaaCTGTGAGCTCATCCTCC | 83 | 0.190 | R | [29]
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 | |
rs683 | TYRP1 | 12699305 | 9 | AC | CCACCTGGTTGAATATAATAG | CCAGCTTTGAAAAGTATGCC | 0.674 | ctctctctctctctctctctctctctctctctctctctctctctctctctctctctcttaaCTTTCTAATACAAGCATATGTTAG | 86 | 0.414 | F | [10] | 15 |
rs12821256 | KITLG | 87852466 | 12 | CT | GTGAAGTTGTGTGGCAGAAG | TAAAGTTCCCTGGAGCCAAG | 0.551 | ctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctctttctGGGCATGTTACTACGGCAC | 90 | 0.241 | R | [29]
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 2007; 39: 1443-1452 |
2.3 Statistical analyses and classification models
3. Results
3.1 Eye color phenotypes

3.2 Association analysis

3.3 Comparative assessment of classification with different SNP predictors
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Magnusson K.P.
- Manolescu A.
- Karason A.
- Palsson A.
- Thorleifsson G.
- Jakobsdottir M.
- Steinberg S.
- Palsson S.
- Jonasson F.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.
- Sulem P.
- Gudbjartsson D.F.
- Stacey S.N.
- Helgason A.
- Rafnar T.
- Jakobsdottir M.
- Steinberg S.
- Gudjonsson S.A.
- Palsson A.
- Thorleifsson G.
- Palsson S.
- Sigurgeirsson B.
- Thorisdottir K.
- Ragnarsson R.
- Benediktsdottir K.R.
- Aben K.K.
- Vermeulen S.H.
- Goldstein A.M.
- Tucker M.A.
- Kiemeney L.A.
- Olafsson J.H.
- Gulcher J.
- Kong A.
- Thorsteinsdottir U.
- Stefansson K.


3.4 MDR analysis

3.5 Predictive performance
Light | Blue | Inter-light | Green-hazel | Inter-dark | Brown | Dark | |
---|---|---|---|---|---|---|---|
(A) 6 Irisplex SNPs | |||||||
Sensitivity | 99.41 | 99.26 | 100.00 | 3.33 | 82.50 | 97.67 | 90.36 |
Specificity | 85.84 | 66.22 | 39.52 | 98.02 | 75.62 | 79.08 | 91.46 |
PPV | 91.30 | 72.83 | 18.48 | 16.67 | 35.87 | 45.65 | 81.52 |
NPV | 98.98 | 98.99 | 100.00 | 89.49 | 96.32 | 99.47 | 95.79 |
(B) Irisplex with rs12913832-rs1129038 | |||||||
Sensitivity | 96.51 | 98.53 | 88.89 | 75.32 | 50.82 | 81.67 | 66.12 |
Specificity | 98.99 | 85.59 | 59.28 | 83.96 | 78.64 | 84.52 | 93.17 |
PPV | 98.81 | 79.76 | 19.05 | 55.24 | 31.96 | 50.52 | 82.47 |
NPV | 97.03 | 99.02 | 98.02 | 92.83 | 89.01 | 95.97 | 84.98 |
(C) Irisplex with 4 HERC2 SNPs | |||||||
Sensitivity | 95.00 | 98.58 | 82.50 | 13.04 | 75.00 | 89.09 | 81.10 |
Specificity | 78.06 | 68.07 | 45.99 | 94.16 | 73.44 | 73.29 | 87.20 |
PPV | 79.91 | 64.65 | 15.35 | 33.33 | 40.00 | 36.30 | 76.30 |
NPV | 94.44 | 98.78 | 95.68 | 82.86 | 92.56 | 97.52 | 90.08 |
4. Discussion
- Liu F.
- Wollstein A.
- Hysi P.G.
- Ankra-Badu G.A.
- Spector T.D.
- Park D.
- Zhu G.
- Larsson M.
- Duffy D.L.
- Montgomery G.W.
- Mackey D.A.
- Walsh S.
- Lao O.
- Hofman A.
- Rivadeneira F.
- Vingerling J.R.
- Uitterlinden A.G.
- Martin N.G.
- Hammond C.J.
- Kayser M.
Acknowledgments
Appendix A. Supplementary data




- Supplementary File S1
Snipper frequency-based three eye color training sets for S1: 23 SNPs.
- Supplementary File S2
Snipper frequency-based three eye color training sets for S2: rs12913832–rs1129038 pair plus 22 SNPs.
- Supplementary File S3
Snipper frequency-based three eye color training sets for S3: rs12913832–rs1129038 pair plus 5 Irisplex SNPs.
- Supplementary Table S1
Hardy Weinberg equilibrium analysis of SNP/eye color phenotype combinations.
- Supplementary Table S3
Association p-values for all 37 SNPs in pigmentation assays SHEP-1 and 2.
- Supplementary Table S4
Association p-values adjusted for rs12913832–rs1129038 as two single variants or two variants.
- Supplementary Table S5
23 allele frequencies in the three reference eye color populations.
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