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rs781444670(C;T)

From SNPedia
Carrier of a homocystinuria mutation
Is agenotype
ofrs781444670
GeneCBS, CBSL
Chromosome21
Position43,066,320
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a homocystinuria mutation

Unaffected in absence of a second CBS gene mutation

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