LHB, luteinizing hormone subunit beta, 3972

N. diseases: 62; N. variants: 11
Disease: Isolated lutropin deficiency (disorder) ×
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: 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