Have questions? Visit https://www.reddit.com/r/SNPedia

rs28940868(A;C)

From SNPedia

carrier for Pompe disease
Is agenotype
ofrs28940868
GeneGAA
Chromosome17
Position80,112,922
mentionedby
Magnitude2
Geno Mag Summary
(A;A) 5 likely to have Pompe disease
(A;C) 2 carrier for Pompe disease
(C;C) 0 normal

rs28940868(A) is the SNP found in most infants with Pompe disease from Taiwan [PMID 9554747]