LHB, luteinizing hormone subunit beta, 3972

N. diseases: 62; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030773
rs5030773 		1.000 0.040 19 49016273 missense variant T/C snv
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		Endocrine System Diseases 0.800 0
dbSNP: rs3795046
rs3795046 		19 49017570 3 prime UTR variant G/T snv 8.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3795047
rs3795047 		19 49017571 3 prime UTR variant A/T snv 8.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121912517
rs121912517 		1.000 0.040 19 49016563 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		Endocrine System Diseases 0.700 0
dbSNP: rs769066903
rs769066903 		1.000 0.040 19 49016691 inframe deletion AACAGCAGCAGC/- delins
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		Endocrine System Diseases 0.700 0
dbSNP: rs786204822
rs786204822 		1.000 0.040 19 49016546 splice donor variant C/A;G snv
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		Endocrine System Diseases 0.700 0
dbSNP: rs786204823
rs786204823 		1.000 0.040 19 49016634 inframe deletion ATGGGGTGG/- delins
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		Endocrine System Diseases 0.700 0
dbSNP: rs1056917
rs1056917 		1.000 0.120 19 49016209 synonymous variant A/G snv 0.61 0.65
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800447
rs1800447 		0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1800447
rs1800447 		0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1800447
rs1800447 		0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800447
rs1800447 		0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs34349826
rs34349826 		0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs34349826
rs34349826 		0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs34349826
rs34349826 		0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs34349826
rs34349826 		0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs767628855
rs767628855 		1.000 0.040 19 49016647 stop gained C/T snv
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2018 2018