BMC Public Health

Table 1 Skin colour, tanning and freckling genetic scores

From: Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children

Skin colour score
Gene	SNP	Chromosome	Chromosomal location	Major/minor alleles	Risk allele^a
IRF4	rs12203592	6p25.3	341321	C/T	T
TYR	rs1042602	11q14.3	88551344	C/A	A
HERC2	rs12913832	15q13.1	26039213	G/A	G
MC1R	rs1805007	16q24.3	88513618	C/T	T
ASIP	rs4911414	20q11.22	32193105	G/T	T
ASIP	rs1015362	20q11.22	32202273	G/A	G
Tanning score
Gene	SNP	Chromosome	Chromosomal location	Major/minor alleles	risk allele ^b
PPARGC1B	rs32579	5q32	149191041	G/A	G
IRF4	rs12203592	6p25.3	341321	C/T	T
IRF4/EXOC2	rs12210050	6p25.3	420489	C/T	T
TYR	rs1393350	11q14.3	88650694	G/A	A
CALCOCO1/HOXC13	rs7969151	12q13.13	52445544	G/A	A
PAPOLA/VRK1	rs17094273	14q32.2	96173560	G/A	A
HERC2	rs12913832	15q13.1	26039213	G/A	G
CPNE7/DPEP1	rs154659	16q24.3	88194838	T/C	C
MC1R	rs1805007	16q24.3	88513618	C/T	T
DBNDD1	rs11648785	16q24.3	88612062	C/T	C
ASIP	rs4911414	20q11.22	32193105	G/T	T
ASIP	rs1015362	20q11.22	32202273	G/A	G
PRDM15	rs7279297	21q22.3	42100984	A/G	A
Freckling score
Gene	SNP	Chromosome	Chromosomal location	Major/minor alleles	Risk allele ^c
IRF4	rs12203592	6p25.3	341321	C/T	T
BNC2	rs2153271	9p22.2	16854521	A/G	A
TYR	rs1042602	11q14.3	88551344	C/A	C
TYR	rs1393350	11q14.3	88650694	G/A	A
MC1R	rs1805007	16q24.3	88513618	C/T	T
ASIP	rs4911414	20q11.22	32193105	G/T	T
ASIP	rs1015362	20q11.22	32202273	G/A	G
EIF6	rs619865	20q11.22	33331111	G/A	A

^aThe risk allele is the allele associated with lighter skin pigmentation.
^bThe risk allele is the allele associated with higher propensity to burn.
^cThe risk allele is the allele associated with a greater likelihood of having freckles.

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ISSN: 1471-2458

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