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rs587777149(A;A)

From SNPedia

inherited C59 deficiency
Is agenotype
ofrs587777149
GeneCD59
Chromosome11
Position33,717,393
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 8 inherited CD59 deficiency
(-;T) 4 unaffected carrier of an inherited CD59 deficiency allele
(A;A) 8 inherited C59 deficiency
(A;T) 4 unaffected carrier of an inherited C59 deficiency allele
(T;T) 0 common in clinvar

See discussion at rs587777149; however, be aware of the potential that this is an error in orientation due to ambiguous flip issues. This is a very rare inherited disorder, with a very severe phenotype, and "true" rs587777149(A;A) patients will most likely have been diagnosed early in infancy.