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rs797045889

From SNPedia

ClinVar
Risk rs797045889(CGC;CGC)
Alt rs797045889(CGC;CGC)
Reference rs797045889(;)
Significance Probable-Pathogenic
Disease Neurodegeneration with brain iron accumulation 2b
Variation info
Gene PLA2G6
CLNDBN Neurodegeneration with brain iron accumulation 2b
Reversed 1
HGVS NC_000022.10:g.38528968_38528970dupGCG
CLNSRC
CLNACC RCV000193975.1,