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rs35859650(A;G)

From SNPedia
Carrier of a possible muscle AMP deaminase deficiency mutation
Is agenotype
ofrs35859650
GeneAMPD1
Chromosome1
Position114,677,972
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of a possible muscle AMP deaminase deficiency mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second AMPD1 gene mutation, even if this is really a disease-causing mutation.