rs864309646, SOHLH1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OVARIAN DYSGENESIS 5
CUI: C4540141
Disease: OVARIAN DYSGENESIS 5
0.700 CausalMutation CLINVAR Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. 25774885 2015
Primary hypogonadism
CUI: C0948896
Disease: Primary hypogonadism
0.700 GeneticVariation CLINVAR Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. 25774885 2015