Table 1 MAFs rs147546939.

From: A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

SNP

Chr. Position (chr 11)

Alleles

MAFa

MAFb

OCA cohort

TYR het and no mutation

rs187887338

88811249

C/G

0.01130

0.0167

NA

NA

rs145409367

88845187

C/T

0.008135

0.0067

NA

NA

rs1042602 (p.Ser192Tyr)

88911696

C/A (S/Y)

0.3640

0.31

0.5783

0.7326

rs529135220

88978983

G/C

0.0016

0.0067

NA

NA

rs147546939

89011733

A/G

0.01799

0.0167

0.2043

0.2533

rs1126809 (p.Arg402Gln)

89017961

G/A (R/Q)

0.2725

0.28

0.3604

0.4811

  1. (a) Non-Finish Europeans (gnomAD database). (b) Danish ancestry (Genome Denmark study).
Back to article page