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rs1060499726

From SNPedia

ClinVar
Risk rs1060499726(-;-)
Alt rs1060499726(-;-)
Reference Rs1060499726(TTATGGGGCC;TTATGGGGCC)
Significance Pathogenic
Disease Fructose-biphosphatase deficiency
Variation info
Gene FBP1
CLNDBN Fructose-biphosphatase deficiency
Reversed 1
HGVS NC_000009.11:g.97367835_97367844delGGCCCCATAA
CLNSRC
CLNACC RCV000456113.1,