rs198844

This is a protein-altering variant in the H1-6 gene.

Research that mentions this SNP (1)

An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia
AssociationN=531Davis CF et al.(2010)· Annals of Hematology

Case-control study of 117 childhood acute lymphoblastic leukemia cases and 414 newborn controls from South Wales investigating the HFE gene and neighboring histone genes. Identified rs807212 as a tagging SNP for the common HFE haplotype with a strong male-specific protective association (adjusted OR=0.27 for heterozygotes, p=0.009) that accounts for the previously reported C282Y risk association. Analysis of 24 SNPs spanning 52 kb in the HFE region revealed complex haplotype structure with male-specific genetic effects.

Traits studied:Birth weightChildhood acute lymphoblastic leukemiaHemochromatosis

About H1-6

Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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