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rs61884288(A;A)

From SNPedia
Likely to be benign; but was previously considered to be associated with Hermansky-Pudlak syndrome, type 5
Is agenotype
ofrs61884288
GeneSAA1, HPS5
Chromosome11
Position18,281,986
mentionedby
Magnitude1
Geno Mag Summary
(A;A) 1 Likely to be benign; but was previously considered to be associated with Hermansky-Pudlak syndrome, type 5
(A;G) 1 Likely benign, actually; but formerly considered a carrier of a reported Hermansky-Pudlak mutation
(G;G) 0 common in clinvar

see discussion at rs61884288