LHB, luteinizing hormone subunit beta, 3972

N. diseases: 62; N. variants: 11
Disease: Klinefelter Syndrome ×
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: 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: 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