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. Author manuscript; available in PMC: 2013 Oct 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2013 Feb 25;22(4):597–606. doi: 10.1158/1055-9965.EPI-12-1248

Table 1.

Skin color, tanning and freckling genetic scores.

skin color score
gene SNP chromosome chromosomal
location
major/minor
alleles
risk
allelea
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
a

The risk allele is the allele associated with lighter skin pigmentation.

b

The risk allele is the allele associated with higher propensity to burn.

c

The risk allele is the allele associated with a greater likelihood of having freckles.

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