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rs797044680

From SNPedia

ClinVar
Risk rs797044680(G;G)
Alt rs797044680(G;G)
Reference rs797044680(;)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12759984dupC
CLNSRC
CLNACC RCV000176041.1,