Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761325768
rs761325768
Entrez Id: 9394
Gene Symbol: HS6ST1
HS6ST1
CUI: C3553977
Disease:
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs761325768
rs761325768
Entrez Id: 9394
Gene Symbol: HS6ST1
HS6ST1
CUI: C3553977
Disease:
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
0.700 GeneticVariation UNIPROT Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 21700882 2011