Variant: rs199538589

present in Gene: HS6ST1 present in Chromosome: 2 Position on Chromosome: 128268254 Alleles of this Variant: G/A

rs199538589 in HS6ST1 gene and HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 21700882 2011 Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.