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rs121908012(C;T)

From SNPedia
Carrier of a congenital erythropoietic porphyria mutation
Is agenotype
ofrs121908012
GeneUROS
Chromosome10
Position125,815,061
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 7 Congenital erythropoietic porphyria (predicted)
(C;T) 3 Carrier of a congenital erythropoietic porphyria mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second UROS gene mutation; see links via main rs-page.