HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
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Sl. No. Reference Journal Publication Year Allele Population Sub Population Gene SNP Amino Acid Change Trait Discovery OR (95% CI) Replication 1 OR (95% CI) Replication 2 OR (95% CI) p-Value Chromosome Variant location Variant Type
1 Box et al. Human Molecular Genetics 1997 G>A,C Caucasian, Asian Caucasian, Chinese MC1R rs2228479 Val92Met Hair, Skin color NA NA NA NA 16 Exonic NA
Human Molecular Genetics C>A,G,T Caucasian, Asian Caucasian, Chinese MC1R rs1805007 Arg151Cys Hair, Skin color NA NA NA NA 16 Exonic NA
Human Molecular Genetics G>A,C Caucasian, Asian Caucasian, Chinese MC1R rs1805009 Asp294His Hair, Skin color NA NA NA NA 16 Exonic NA
Human Molecular Genetics C>T Caucasian, Asian Caucasian, Chinese MC1R rs1805008 Arg160Trp Hair, Skin color NA NA NA NA 16 Exonic NA
Human Molecular Genetics G>T Caucasian, Asian Caucasian , Asian MC1R rs1805005 Val60Leu Hair, Skin color NA NA NA NA 16 Exonic NA
2 Voicey et al. Pigment Cell and Melanoma Research 2001 C>T Caucasian, Asian, African-American, Australian, Spanish, ispanic Caucasian, Asian, African-American, Australian, Spanish, ispanic MC1R rs1805008 Arg160Trp Hair, Skin color NA NA NA NA 16 Exonic NA
Pigment Cell and Melanoma Research C>A,G,T Caucasian, Asian, African-American, Australian, Spanish, ispanic Caucasian, Asian, African-American, Australian, Spanish, ispanic MC1R rs1805007 Arg151Cys Hair, Skin color NA NA NA NA 16 Exonic NA
Pigment Cell and Melanoma Research G>A,C Caucasian, Asian, African-American, Australian, Spanish, ispanic Caucasian, Asian, African-American, Australian, Spanish, ispanic MC1R rs2228479 Val92Met Hair, Skin color NA NA NA NA 16 Exonic NA
Pigment Cell and Melanoma Research G>T Caucasian, Asian, African-American, Australian, Spanish, ispanic Caucasian, Asian, African-American, Australian, Spanish, ispanic MC1R rs1805005 Val60Leu Hair, Skin color NA NA NA NA 16 Exonic NA
Pigment Cell and Melanoma Research G>A,C Caucasian, Asian, African-American, Australian, Spanish, ispanic Caucasian, Asian, African-American, Australian, Spanish, ispanic MC1R rs1805009 Asp294His Hair, Skin color NA NA NA NA 16 Exonic NA
3 Akey et al. Human Genetics 2001 G>A Asian Tibetan MC1R rs34090186 Arg67Gln Skin color NA NA NA NA 16 Exonic NA
Human Genetics C>T Asian Tibetan MC1R rs2228479 Val92Met Skin color NA NA NA NA 16 Exonic NA
4 Shi et al. Cell Research 2001 G>T Asian Chinese MC1R rs1805005 Val60Leu Hair, Skin color NA NA NA NA 16 Exonic NA
Cell Research G>A Asian Chinese MC1R rs34090186 Arg67Gln Hair, Skin color NA NA NA NA 16 Exonic NA
Cell Research G>A,C Asian Chinese MC1R rs2228479 Val92Met Hair, Skin color NA NA NA NA 16 Exonic NA
Cell Research G>A Asian Chinese MC1R rs885479 Arg163Gln Hair, Skin color NA NA NA NA 16 Exonic NA
Cell Research C>T Asian Chinese MC1R rs752932359 Ala299Val Hair, Skin color NA NA NA NA 16 Exonic NA
5 Rebbeck et al. Cancer Epidemiology, Biomarkers & Prevention 2002 NA Others Others P gene NA Arg305Trp Eye color NA NA NA 2.00E-03 NA NA NA
Cancer Epidemiology, Biomarkers & Prevention NA Others Others P gene NA Arg419Gln Eye color NA NA NA 1.00E-03 NA NA NA

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