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rs797044540

From SNPedia

ClinVar
Risk rs797044540(;)
Alt rs797044540(;)
Reference rs797044540(ATACAA;ATACAA)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235875450_235875455delTTGTAT
CLNSRC
CLNACC RCV000192050.1,