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rs386834233(A;G)

From SNPedia
Maple Syrup Urine Disease Type 1B carrier
Is agenotype
ofrs386834233
GeneBCKDHB
Chromosome6
Position80,201,023
Merged fromRs150084361
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5 Maple Syrup Urine Disease Type 1B
(A;G) 3 Maple Syrup Urine Disease Type 1B carrier
(G;G) 0 common in clinvar

Unaffected in absence of a second BCKDHB gene mutation