HIrisPlex-S Eye, Hair and Skin Colour DNA Phenotyping Webtool

The HIrisPlex-S System

	Gene	SNP	Allele	No. of Alleles
1	MC1R	rs312262906	A
2	MC1R	rs11547464	A
3	MC1R	rs885479	T
4	MC1R	rs1805008	T
5	MC1R	rs1805005	T
6	MC1R	rs1805006	A
7	MC1R	rs1805007	T
8	TUBB3	rs1805009	C
9	MC1R	rs201326893	A
10	MC1R	rs2228479	A
11	MC1R	rs1110400	C
12	SLC45A2	rs28777	C
13	SLC45A2	rs16891982	C
14	KITLG	rs12821256	G
15	LOC105374875	rs4959270	A
16	IRF4	rs12203592	T
17	TYR	rs1042602	T
18	OCA2	rs1800407	A
19	SLC24A4	rs2402130	G
20	HERC2	rs12913832	T
21	PIGU	rs2378249	C
22	LOC105370627	rs12896399	T
23	TYR	rs1393350	T
24	TYRP1	rs683	G
25	ANKRD11	rs3114908	T
26	OCA2	rs1800414	C
27	BNC2	rs10756819	G
28	HERC2	rs2238289	C
29	SLC24A4	rs17128291	C
30	HERC2	rs6497292	C
31	HERC2	rs1129038	G
32	HERC2	rs1667394	C
33	TYR	rs1126809	A
34	OCA2	rs1470608	A
35	SLC24A5	rs1426654	G
36	ASIP	rs6119471	C
37	OCA2	rs1545397	T
38	RALY	rs6059655	T
39	OCA2	rs12441727	A
40	MC1R	rs3212355	A
41	DEF8	rs8051733	C

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result.
Inputs missing all MC1R (11 SNPs) will not produce a hair colour prediction result.
Inputs missing HERC2-SLC45A2-IRF4 will not produce an eye or hair colour prediction result.

Number of Individuals in the Database
Eye colour prediction	9466
Hair colour prediction	1878
Hair shade prediction	854
Skin colour prediction	1423

Prediction Performance Metrics are based on the mean +/- standard deviation (sd) of 1000 Cross Validated tests of individuals within the Database (80% for training and 20% for testing). Important to note is that these measures are based upon the highest probability representing the final prediction, which is not the case in practice for hair and skin colour prediction as they recommended the use of prediction guides according to HIrisPlex and HIrisPlex-S publications.

This is to show the performance of the model only, the entire database is used to train the model for the prediction of new data.

Current Prediction Performance Metrics
	AUC	Sensitivity	Specificity	PPV	NPV	Balanced Accuracy
Blue Eye Color	0.939 +/- 0.005	0.928 +/- 0.008	0.866 +/- 0.012	0.903 +/- 0.009	0.899 +/- 0.011	0.897 +/- 0.007
Intermediate Eye Color	0.735 +/- 0.005	0.001 +/- 0.003	0.999 +/- 0.001	0.085 +/- 0.232*	0.912 +/- 0.006	0.500 +/- 0.001
Brown Eye Color	0.946 +/- 0.005	0.935 +/- 0.009	0.859 +/- 0.009	0.772 +/- 0.015	0.963 +/- 0.005	0.897 +/- 0.006
Blond Hair Color	0.800 +/- 0.020	0.665 +/- 0.039	0.767 +/- 0.023	0.629 +/- 0.037	0.794 +/- 0.025	0.716 +/- 0.022
Brown Hair Color	0.719 +/- 0.024	0.656 +/- 0.037	0.652 +/- 0.032	0.578 +/- 0.032	0.723 +/- 0.029	0.654 +/- 0.021
Red Hair Color	0.916 +/- 0.029	0.613 +/- 0.086	0.980 +/- 0.008	0.733 +/- 0.087	0.966 +/- 0.009	0.797 +/- 0.043
Black Hair Color	0.831 +/- 0.031	0.333 +/- 0.064	0.979 +/- 0.008	0.699 +/- 0.092	0.911 +/- 0.011	0.656 +/- 0.032
Very Pale Skin Color	0.744 +/- 0.050	0.078 +/- 0.057	0.991 +/- 0.006	0.401 +/- 0.270*	0.935 +/- 0.013	0.535 +/- 0.028
Pale Skin Color	0.719 +/- 0.025	0.697 +/- 0.040	0.628 +/- 0.037	0.599 +/- 0.032	0.723 +/- 0.029	0.662 +/- 0.025
Intermediate Skin Color	0.731 +/- 0.026	0.573 +/- 0.047	0.749 +/- 0.033	0.596 +/- 0.034	0.731 +/- 0.022	0.661 +/- 0.026
Dark Skin Color	0.875 +/- 0.084	0.295 +/- 0.156	0.980 +/- 0.009	0.338 +/- 0.168	0.975 +/- 0.008	0.637 +/- 0.077
Dark-to-Black Skin Color	0.958 +/- 0.036	0.810 +/- 0.097	0.987 +/- 0.008	0.806 +/- 0.103	0.988 +/- 0.006	0.899 +/- 0.049

* less than 1000 test runs were used to compute this metric due to lower numbers of this category within the database

file upload

example input file (header only, add your own data): hirisplexs.csv

The HIrisPlex System

	Gene	SNP	Allele	No. of Alleles
1	MC1R	rs312262906	A
2	MC1R	rs11547464	A
3	MC1R	rs885479	T
4	MC1R	rs1805008	T
5	MC1R	rs1805005	T
6	MC1R	rs1805006	A
7	MC1R	rs1805007	T
8	TUBB3	rs1805009	C
9	MC1R	rs201326893	A
10	MC1R	rs2228479	A
11	MC1R	rs1110400	C
12	SLC45A2	rs28777	C
13	SLC45A2	rs16891982	C
14	KITLG	rs12821256	G
15	LOC105374875	rs4959270	A
16	IRF4	rs12203592	T
17	TYR	rs1042602	T
18	OCA2	rs1800407	A
19	SLC24A4	rs2402130	G
20	HERC2	rs12913832	T
21	PIGU	rs2378249	C
22	LOC105370627	rs12896399	T
23	TYR	rs1393350	T
24	TYRP1	rs683	G

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result.
Inputs missing all MC1R (11 SNPs) will not produce a hair colour prediction result.
Inputs missing HERC2-SLC45A2-IRF4 will not produce an eye or hair colour prediction result.

file upload

example input file (header only, add your own data): hirisplex.csv

The IrisPlex System

	Gene	SNP	Allele	No. of Alleles
1	HERC2	rs12913832	T
2	OCA2	rs1800407	A
3	LOC105370627	rs12896399	T
4	SLC45A2	rs16891982	C
5	TYR	rs1393350	T
6	IRF4	rs12203592	T

Instructions

If input allele is not present, put 0 into 'No. of alleles' box
If one is present, heterozygote, put 1 in the box
If the only allele present is the input allele, homozygote, put 2 in the box
If there is a missing SNP. please enter NA
Inputs missing HERC2 rs12913832 will not produce an eye colour prediction result

file upload

example input file (header only, add your own data): irisplex.csv

Notes

Please Note:
Partial profiles do not reflect the full prediction potential of all three prediction systems and should be used with caution. Also prediction values may differ from IrisPlex or HIrisPlex Excel prediction values previously published. This is due to an increase in database size for use in the underlying models for eye, hair and skin colour in this online tool.