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rs1057517152

From SNPedia
ClinVar
Risk rs1057517152(-;-)
Alt rs1057517152(-;-)
Reference Rs1057517152(AAAGT;AAAGT)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118867042_118867046delGTAAA
CLNSRC
CLNACC RCV000411080.1,