LHB, luteinizing hormone subunit beta, 3972

N. diseases: 62; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030773
rs5030773
Entrez Id: 3972;10856
Gene Symbol: LHB;RUVBL2
LHB;RUVBL2
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs5030773
rs5030773
Entrez Id: 3972;10856
Gene Symbol: LHB;RUVBL2
LHB;RUVBL2
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs3795046
rs3795046
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3795047
rs3795047
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs121912517
rs121912517
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs769066903
rs769066903
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs786204822
rs786204822
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs786204822
rs786204822
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs786204823
rs786204823
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271582
Disease:
Isolated lutropin deficiency (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1056917
rs1056917
Entrez Id: 3972;10856
Gene Symbol: LHB;RUVBL2
LHB;RUVBL2
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE The objective of this study was to assess the association of LHβ (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. 30958034 2019
dbSNP: rs767628855
rs767628855
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0151721
Disease:
Testicular hypogonadism
0.010 GeneticVariation BEFREE Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism. 29476300 2018
dbSNP: rs1800447
rs1800447
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome. 25111116 2014
dbSNP: rs34349826
rs34349826
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome. 25111116 2014
dbSNP: rs1800447
rs1800447
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271623
Disease:
Hypogonadotropic hypogonadism
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: rs1800447
rs1800447
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0022735
Disease:
Klinefelter Syndrome
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
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0271623
Disease:
Hypogonadotropic hypogonadism
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
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0022735
Disease:
Klinefelter Syndrome
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: rs1800447
rs1800447
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0004509
Disease:
Azoospermia
0.010 GeneticVariation BEFREE The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia. 12620433 2003
dbSNP: rs34349826
rs34349826
Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0004509
Disease:
Azoospermia
0.010 GeneticVariation BEFREE The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia. 12620433 2003