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

rs17602729(A;G)

From SNPedia
AMPD1 deficiency heterozygous (orientation reversed)
Is agenotype
ofrs17602729
GeneAMPD1
Chromosome1
Position114,693,436
mentionedby
Magnitude2.8
ReputeBad
Geno Mag Summary
(A;A) 3 AMPD1 deficiency homozygous (orientation reversed)
(A;C) 2.1 unexpected genotype
(A;G) 2.8 AMPD1 deficiency heterozygous (orientation reversed)
(A;T) 3.5 Really unexpected!
(C;C) 0 normal
(C;G) 2.1 unexpected genotype
(C;T) 2.8 AMPD1 deficiency heterozygous
(G;G) 0 normal (orientation reversed)
(G;T) 3.4 unexpected genotype
(T;T) 3 AMPD1 deficiency homozygous

If orientation is incorrect in your raw data, this would be the pathogenic heterozygous allele. This SNP changed orientation between b36 and b37. See rs17602729(C;T) for the new orientation.