. Author manuscript; available in PMC: 2015 Jul 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2014 May 12;27(4):552–564. doi: 10.1111/pcmr.12253

Table 1. Skin, hair and eye colour distribution for each TYR haplotype.

TYR phase^a	TYR protein^b	Allele Strength^c	Proposed Frequency (95% CI)	% Penetrance Skin^d			% Penetrance Hair^e					% Penetrance Eye^f
TYR phase^a	TYR protein^b	Allele Strength^c	Proposed Frequency (95% CI)	Fair	Medium	Olive/ dark	Red	Fair/ blond	Light brown	Dark brown	Black	Blue	Green	Brown
1-1	S-R	3	0.35 (0.34-0.37)	46	41	14	7	15	33	38	7	39	35	26
2-1	Y-R	2	0.32 (0.31-0.34)	50	42	9	7	18	36	36	4	44	33	23
1-2	S-Q	1	0.30 (0.29-0.31)	55	38	7	7	18	35	36	4	51	30	20
2-2	Y-Q	0	0.019 (0.016-0.023)	64	31	5	8	22	41	25	5	61	021	17

Designated for rs1042602*C/A = 1/2 - rs1126809*G/A = 1/2

Protein phases designated at S192Y-R402Q as 192S = 1, 192Y = 2; 402R = 1, 402Q = 2

Based on a four point scale S-R = 3, Y-R =2, S-Q =1, Y-Q = 0

Sample set of 5,394 for skin colour,

Sample set of 5,393 for hair colour,

Sample set of 4,942 for eye colour, in BTNS and/or melanoma cases in which haplotype phase was predicted from the MENDEL program