Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565572949
rs1565572949
DHH ; LOC105369759
C 0.700 CausalMutation CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535

2018
dbSNP: rs864309645
rs864309645
SOHLH1
T 0.700 GeneticVariation CLINVAR Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. 25774885

2015
dbSNP: rs864309646
rs864309646
SOHLH1
C 0.700 GeneticVariation CLINVAR Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. 25774885

2015
dbSNP: rs111033806
rs111033806
GALT
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777872
rs587777872
MCM9
A 0.700 CausalMutation CLINVAR

dbSNP: rs1165860389
rs1165860389
NUP107
0.010 GeneticVariation BEFREE Our findings indicate that NUP107 R355C variant falls in the category of variant of unknown significance as the cause of HH and infertility. 29363275

2018