Table 3 Haplotypes and clinical diagnosis of six individuals with no previously identified mutations in TYR Y: tyrosine, Q: glutamine, OCA: oculocutaneous albinism, AROA: autosomal recessive ocular albinism.

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

Sample ID

rs1042602 (S192Y)

rs1126809 (R402Q)

rs147546939A > G

rs529135220G > C

Diagnosis

22

A/A (Y/Y)

A/A (Q/Q)

G/G

G/G

AROA

57

A/A (Y/Y)

A/A (Q/Q)

G/G

NA

AROA

70

A/A (Y/Y)

A/A (Q/Q)

G/G

NA

AROA

96

A/A (Y/Y)

A/A (Q/Q)

G/G

G/C

AROA

262

A/A (Y/Y)

A/A (Q/Q)

G/G

NA

OCA

308

A/A (Y/Y)

A/A (Q/Q)

G/G

G/C

AROA

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