Pigmentation SNP genotypes for Motala hunter-gatherers

Below are all of the available genotypes for the Motala hunter-gatherers for the pigmentation SNPs included in the 8-plex and HIrisPlex systems. The genotypes for Motala 12 were already published, so they are omitted here.

Motala 3 had two copies of the derived allele of rs12203592, which is associated with lighter hair and eye color, and freckling. Motala 12 and Loschbour also had two copies of the derived allele, while Stuttgart had two copies of the ancestral allele.

Motala 3 and 6 had two copies of the ancestral allele of rs12821256, the derived allele of which is associated with blond hair. Motala 12, Loschbour, Stuttgart, Ajvide 58, and Gökhem 2 and 4 also had two copies of the ancestral allele.

Motala 3 had two copies of the ancestral allele of rs1805006, the derived allele of which is associated with red hair and fair skin. Motala 12, Loschbour, Stuttgart, Ajvide 58, and Gökhem 2 also had two copies of the ancestral allele.

Motala 2 had two copies of the ancestral allele of rs1805008, the derived allele of which is also associated with red hair and fair skin. Motala 12, Loschbour, Stuttgart, Stora Förvar 11, Ajvide 58, and Gökhem 2 and 7 also had two copies of the ancestral allele.

Motala 3 had two copies of the ancestral allele of rs1800407, the derived allele of which is associated with green or hazel eyes. Motala 12, Loschbour, Stuttgart, Ajvide 58, and Gökhem 2 also had two copies of the ancestral allele.

Motala 2 had two copies of the derived allele of rs1426654. This SNP is located in the gene SLC24A5, and its derived allele is one of the two major Caucasoid depigmentation mutations. Motala 12, Stuttgart, Gökhem 2, Ötzi, and Afontova Gora 2 also had two copies of the derived allele, while Loschbour, Ajvide 58, La Braña 1, and Mal’ta 1 had two copies of the ancestral allele.

Motala 4 had two copies of the ancestral allele of rs1393350, the derived allele of which is associated with blond hair and blue eyes. Motala 12, Loschbour, Stuttgart, Ajvide 52 and 58, and Gökhem 2 also had two copies of the ancestral allele.

Gene     SNP         Sample    Genotype
ASIP     rs6119471   Motala 1  CC
ASIP     rs6119471   Motala 3  CC
EXOC2    rs4959270   Motala 1  AA
IRF4     rs12203592  Motala 3  TT
KITLG    rs12821256  Motala 3  TT
KITLG    rs12821256  Motala 6  TT
MC1R     rs1805006   Motala 3  CC
MC1R     rs1805008   Motala 2  CC
MC1R     rs885479    Motala 2  GG
OCA2     rs1545397   Motala 1  AA
OCA2     rs1800407   Motala 3  CC
SLC24A5  rs1426654   Motala 2  AA
SLC45A2  rs28777     Motala 1  AA
TYR      rs1393350   Motala 4  GG
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