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rs104893687(C;T)

From SNPedia
Carrier of a biotinidase deficiency mutation
Is agenotype
ofrs104893687
GeneBTD
Chromosome3
Position15,635,614
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a biotinidase deficiency mutation

Unaffected in absence of a second BTD gene mutation