Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
0.730 GeneticVariation BEFREE Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. 23155690

2012
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
0.730 GeneticVariation BEFREE Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. 19449676

2009
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
0.730 GeneticVariation BEFREE 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 0.730 CausalMutation CLINVAR

dbSNP: rs149091975
rs149091975
GLI2
0.010 GeneticVariation BEFREE A nonsynonymous variant, c.2159G > A [p.R720H], was identified in a patient with a short neck, cleft palate and hypogonadotrophic hypogonadism. 25327282

2015
dbSNP: rs267607165
rs267607165
TUBB3
0.010 GeneticVariation BEFREE A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). 25559402

2015
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. 23155690

2012
dbSNP: rs104893844
rs104893844
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE In humans, E90K causes severe HH by preventing formation of the E90-K121 salt bridge, which is essential for correct folding. 22918878

2012
dbSNP: rs1363196459
rs1363196459
EDNRA
0.010 GeneticVariation BEFREE Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. 23155690

2012
dbSNP: rs1377173003
rs1377173003
ADRA1A
0.010 GeneticVariation BEFREE Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. 23155690

2012
dbSNP: rs74315418
rs74315418
PROKR2
0.010 GeneticVariation BEFREE Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects. 22745195

2012
dbSNP: rs771470596
rs771470596
EDNRA
0.010 GeneticVariation BEFREE In humans, E90K causes severe HH by preventing formation of the E90-K121 salt bridge, which is essential for correct folding. 22918878

2012
dbSNP: rs970697573
rs970697573
LPAR2
0.010 GeneticVariation BEFREE Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. 23155690

2012
dbSNP: rs750566506
rs750566506
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism. 21277937

2011
dbSNP: rs148499544
rs148499544
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. 19449676

2009
dbSNP: rs78861628
rs78861628
PROKR2
0.010 GeneticVariation BEFREE In PROKR2, four distinct mutations (p.R80C, p.Y140X, p.L173R, and p.R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH. 18682503

2008
dbSNP: rs1800447
rs1800447
LHB
0.010 GeneticVariation BEFREE Two hundred and two adults (115 women) with normal sexual function and 48 patients (24 women) with hypogonadotropic hypogonadism underwent a molecular study of the the luteinizing hormone beta-subunit gene using a polymerase chain reaction technique followed by enzymatic digestion with the restriction enzymes Nco I (for detection of the Trp8Arg point mutation) and Fok I (for detection of the Ile15Thr point mutation). 16358135

2005
dbSNP: rs34349826
rs34349826
LHB
0.010 GeneticVariation BEFREE Two hundred and two adults (115 women) with normal sexual function and 48 patients (24 women) with hypogonadotropic hypogonadism underwent a molecular study of the the luteinizing hormone beta-subunit gene using a polymerase chain reaction technique followed by enzymatic digestion with the restriction enzymes Nco I (for detection of the Trp8Arg point mutation) and Fok I (for detection of the Ile15Thr point mutation). 16358135

2005
dbSNP: rs74452732
rs74452732
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 12679486

2003
dbSNP: rs104894897
rs104894897
NR0B1
0.010 GeneticVariation BEFREE All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism. 11443184

2001
dbSNP: rs28935481
rs28935481
NR0B1
0.010 GeneticVariation BEFREE We have identified a missense mutation (N440I) in three patients with AHC and HHG, all belonging to a large Greenlandic family. 9003500

1997