Table 1.

Five commonly occurring and one rare functional SNP at OCA2 influencing expression of human pigmentation variation.

Nucleotide position GRCh38	Distance to next SNP in basepairs	dbSNP rs-number	Ancestral amino acids‡ Anc-position#-Drv	Alleles Anc, Drv forward strand	Hypomorphic
27,951,891	31,516	rs1800414	His615Arg	T,C
27,983,407	1,694	rs74653330	Ala481Thr	C,T	mildly
27,985,101	71	rs121918166 *	Val443Ile	C,T	very
27,985,172	29,735	rs1800407	Arg419Gln	C,T	possibly
28,014,907	66,967	rs1800401 *	Arg305Trp	G,A
28,081,874	38,598	–	initiation codon	–
28,120,472		rs12913832	enhancer	A,G

*SNPs not studied in this report.

^‡Anc, ancestral; Drv, derived; amino acids–Ala, alanine; Arg, arginine; Gln, glutamine; His, histidine; Ile, isoleucine; Thr, threonine; Trp, tryptophan; Val, valine.