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rs1057516855

From SNPedia
ClinVar
Risk rs1057516855(-;-)
Alt rs1057516855(-;-)
Reference Rs1057516855(TGGGTGAG;TGGGTGAG)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004468_13004475delGTGAGTGG
CLNSRC
CLNACC RCV000412140.1,