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rs797044712

From SNPedia

ClinVar
Risk rs797044712(T;T)
Alt rs797044712(T;T)
Reference rs797044712(;)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2E
Variation info
Gene COG7
CLNDBN Congenital disorder of glycosylation type 2E
Reversed 1
HGVS NC_000016.9:g.23456481dupA
CLNSRC
CLNACC RCV000177415.1,