Gene: UBA6-AS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933074
rs28933074
GNRHR ; UBA6-AS1
C 0.810 CausalMutation CLINVAR

dbSNP: rs104893838
rs104893838
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893839
rs104893839
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893840
rs104893840
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893843
rs104893843
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893844
rs104893844
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs74452732
rs74452732
GNRHR ; UBA6-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893841
rs104893841
GNRHR ; UBA6-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104893847
rs104893847
GNRHR ; UBA6-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs281865427
rs281865427
GNRHR ; UBA6-AS1
TT 0.700 CausalMutation CLINVAR

dbSNP: rs727505367
rs727505367
GNRHR ; UBA6-AS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs797044452
rs797044452
GNRHR ; UBA6-AS1
T 0.700 CausalMutation CLINVAR

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

2007
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 Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. 26207952

2015
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
T 0.820 CausalMutation CLINVAR Genetics of congenital hypogonadotropic hypogonadism in Denmark. 24732674

2014
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: 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