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rs797044784

From SNPedia

ClinVar
Risk rs797044784(GGTC;GGTC)
Alt rs797044784(GGTC;GGTC)
Reference rs797044784(CTGG;CTGG)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28261318_28261321delCCAGinsGACC
CLNSRC
CLNACC RCV000180125.1,