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rs863225438

From SNPedia

ClinVar
Risk rs863225438(;)
Alt rs863225438(;)
Reference rs863225438(GTGA;GTGA)
Significance Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118811423_118811426delGTGA
CLNSRC
CLNACC RCV000202368.1,