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