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rs13078881(C;G)

From SNPedia
Carrier of a biotinidase deficiency mutation
Is agenotype
ofrs13078881
GeneBTD
Chromosome3
Position15,645,186
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 6.7 Biotinidase deficiency; note ability to treat & variable penetrance
(C;G) 3 Carrier of a biotinidase deficiency mutation
(G;G) 0 common in clinvar

Unaffected in absence of another BTD gene mutation; see rs13078881