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rs121912982(C;T)

From SNPedia
Carrier of an ALAD deficiency porphyria mutation
Is agenotype
ofrs121912982
GeneALAD
Chromosome9
Position113,389,521
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an ALAD deficiency porphyria mutation

Unaffected in absence of a second mutation in the ALAD gene; see links via main rs-page and the ALAD gene page