Variant: rs140085544 

    present in Gene: ANK1
    present in Chromosome: 8
    Position on Chromosome: 41716970
    Alleles of this Variant: C/T

rs140085544 in ANK1 gene and SPHEROCYTOSIS, TYPE 1 (disorder) PMID 8640229 1996 Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.

PMID 11102985 2000 Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.