Variant: rs121434448 

    present in Gene: HR
    present in Chromosome: 8
    Position on Chromosome: 22116400
    Alleles of this Variant: A/G;T

rs121434448 in HR gene and Alopecia universalis congenita PMID 9445480 1998 Alopecia universalis associated with a mutation in the human hairless gene.

PMID 12406339 2002 A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

PMID 9736769 1998 Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

PMID 24334705 2014 Hairless is a histone H3K9 demethylase.