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rs281865108

From SNPedia

ClinVar
Risk rs281865108(C;C)
Alt rs281865108(C;C)
Reference rs281865108(;)
Significance Probable-Pathogenic
Disease Hermansky-Pudlak syndrome 6
Variation info
Gene HPS6
CLNDBN Hermansky-Pudlak syndrome 6
Reversed 1
HGVS NC_000010.10:g.103825469dupG
CLNSRC
CLNACC RCV000190593.1,