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rs1057517408

From SNPedia
ClinVar
Risk rs1057517408(-;-)
Alt rs1057517408(-;-)
Reference Rs1057517408(CCTATGGCTCCGGAGAC;CCTATGGCTCCGGAGAC)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12768890_12768906del17
CLNSRC
CLNACC RCV000411548.1,