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rs80338701(A;C)

From SNPedia
Carrier of a congenital disorder of glycosylation type I mutation
Is agenotype
ofrs80338701
GenePMM2
Chromosome16
Position8,811,088
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;C) 3 Carrier of a congenital disorder of glycosylation type I mutation
(C;C) 0 common in clinvar

Unaffected in absence of a second PMM2 gene mutation