Variant: rs121434374 

    present in Gene: HJV
    present in Chromosome: 1
    Position on Chromosome: 146018395
    Alleles of this Variant: G/C;T

rs121434374 in HJV gene and HEMOCHROMATOSIS, TYPE 2A PMID 14647275 2004 Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

PMID 14982873 2004 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

PMID 15461631 2004 Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

PMID 14982867 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.