Gene: UBA6-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency. 29182666

2017
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. 28611058

2017
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR Genetics of congenital hypogonadotropic hypogonadism in Denmark. 24732674

2014
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 22745237

2012
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017

2012
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 22745237

2012
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 17235395

2007
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 16968799

2006
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles. 15728205

2005
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction. 12574221

2003
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction. 12574221

2003
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. 12057744

2002
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR Herein, we describe a 26-yr-old male with a mild phenotypic form of IHH, the fertile eunuch syndrome (IHH in the presence of normal testicular size and some degree of spermatogenesis), associated with a homozygous mutation (Gln106Arg) in the GnRH-R. 11397842

2001
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 10999776

2000
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
C 0.820 CausalMutation CLINVAR A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 9371856

1997
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 9371856

1997
dbSNP: rs28933074
rs28933074
GNRHR ; UBA6-AS1
C 0.810 CausalMutation CLINVAR

dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. 26207952

2015
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B. 22405597

2012
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017

2012
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 22745237

2012
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 22766261

2012
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene. 12568864

2003
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism. 12364481

2002
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871

2001