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rs797045423

From SNPedia

ClinVar
Risk rs797045423(TGGAGGAACAGT;TGGAGGAACAGT)
Alt rs797045423(TGGAGGAACAGT;TGGAGGAACAGT)
Reference rs797045423(GA;GA)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Neurodegeneration with brain iron accumulation 4
Reversed 1
HGVS NC_000019.9:g.30193819_30193820delTCinsACTGTTCCTCCA
CLNSRC
CLNACC RCV000194885.1,