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rs17602729(T;T)

From SNPedia

AMPD1 deficiency homozygous
Is agenotype
ofrs17602729
GeneAMPD1
Chromosome1
Position114,693,436
mentionedby
Magnitude3.0
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

This is found in ~2% of all caucasians. The majority of people with the AMPD gene are asymptomatic, but in response to vigorous exercise, others have symptoms including early fatigue, muscle pain and muscle cramping.