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rs642742

From SNPedia

skin color
Orientationminus
Stabilizedminus
Make rs642742(A;A)
Make rs642742(A;G)
Make rs642742(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position88905969
is asnp
is mentioned by
dbSNPrs642742
ebirs642742
HLIrs642742
Exacrs642742
Varsomers642742
Maprs642742
PheGenIrs642742
hapmaprs642742
1000 genomesrs642742
hgdprs642742
ensemblrs642742
gopubmedrs642742
geneviewrs642742
scholarrs642742
googlers642742
pharmgkbrs642742
gwascentralrs642742
openSNPrs642742
23andMers642742
23andMe allrs642742
SNP Nexus

SNPshotrs642742
SNPdbers642742
MSV3drs642742
GWAS Ctlgrs642742
GMAF0.3714
Max Magnitude
? (A;A) (A;G) (G;G) 28
Influences appearance gnxp

For the rs642742 SNP (184745.0002), located 326 kb upstream of the KITLG transcription start site, the frequency of the ancestral A allele is at least 92% in West Africans, whereas the frequency of the derived G allele is at least 86% in Europeans and East Asians. Admixture mapping suggested that replacement of AA with GG in the rs642742 SNP may account for a lightening of a person's skin by 6 to 7 melanin units. In comparison, the overall skin reflectance difference between West Africans and Europeans is 30 melanin units.

OMIM611664
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7
Variant
Relatedalso
OMIM184745
DescKIT LIGAND; KITLG
Variant
Relatedalso
OMIM184745
Desc
Variant0002
Relatedalso