Disease: Leydig cell agenesis ×
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: rs121912520
rs121912520 		0.851 0.240 2 48688020 missense variant C/G snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.810 1.000 10 1995 2009
dbSNP: rs121912529
rs121912529 		0.925 0.160 2 48688737 missense variant C/T snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 10 1995 2009
dbSNP: rs121912536
rs121912536 		1.000 0.160 2 48688770 missense variant A/T snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 10 1995 2009
dbSNP: rs121912537
rs121912537 		1.000 0.160 2 48688170 missense variant A/G snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 10 1995 2009
dbSNP: rs121912538
rs121912538 		1.000 0.160 2 48688292 missense variant A/G snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 10 1995 2009
dbSNP: rs121912539
rs121912539 		1.000 0.160 2 48723650 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 2.8E-04
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 10 1995 2009
dbSNP: rs121912525
rs121912525 		0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 10 1995 2009
dbSNP: rs121912527
rs121912527 		0.925 0.160 2 48723689 missense variant A/G snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 10 1995 2009
dbSNP: rs121912530
rs121912530 		0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 10 1995 2009
dbSNP: rs121912518
rs121912518 		0.882 0.160 2 48688064 missense variant T/C;G snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912523
rs121912523 		0.925 0.240 2 48688162 stop gained G/T snv 8.0E-06
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912524
rs121912524 		0.925 0.160 2 48688137 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs140568136
rs140568136 		1.000 0.160 2 48723638 stop gained C/A snv 8.0E-05 1.4E-05
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs144859947
rs144859947 		1.000 0.160 2 48687928 stop gained A/C;G;T snv 2.2E-04
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553387851
rs1553387851 		0.925 0.200 2 48698772 frameshift variant G/- delins
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs773279269
rs773279269 		1.000 0.160 2 48725689 stop gained G/A;C snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121912535
rs121912535 		0.827 0.240 2 48688427 missense variant A/C snv
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs560462207
rs560462207 		0.925 0.160 2 48688779 missense variant T/C snv 4.0E-06 2.8E-05
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006