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rs796051859

From SNPedia

ClinVar
Risk rs796051859(G;G)
Alt rs796051859(G;G)
Reference rs796051859(;)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127486712dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003966.3,