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: 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
dbSNP: rs560462207
rs560462207 		0.925 0.160 2 48688779 missense variant T/C snv 4.0E-06 2.8E-05
CUI: C0860158
Disease: Leydig Cell Hypoplasia
Leydig Cell Hypoplasia 		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
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: rs121912520
rs121912520 		0.851 0.240 2 48688020 missense variant C/G snv
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
Luteinizing Hormone Resistance, Female 		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: rs121912524
rs121912524 		0.925 0.160 2 48688137 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
Luteinizing Hormone Resistance, Female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912527
rs121912527 		0.925 0.160 2 48723689 missense variant A/G snv
CUI: C2673497
Disease: Leydig Cell Hypoplasia, Type II
Leydig Cell Hypoplasia, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912529
rs121912529 		0.925 0.160 2 48688737 missense variant C/T snv
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
Luteinizing Hormone Resistance, Female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121912530
rs121912530 		0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06
CUI: C2673497
Disease: Leydig Cell Hypoplasia, Type II
Leydig Cell Hypoplasia, Type II 		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: rs750481017
rs750481017 		1.000 0.160 2 48714011 missense variant A/C snv 4.0E-06
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		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: rs6755901
rs6755901 		1.000 0.040 2 48698607 splice region variant C/T snv 0.75 0.81
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912526
rs121912526 		0.882 0.040 2 48688604 missense variant A/G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.840 1.000 15 1993 2002
dbSNP: rs121912518
rs121912518 		0.882 0.160 2 48688064 missense variant T/C;G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.830 1.000 13 1993 2013
dbSNP: rs121912521
rs121912521 		0.925 0.200 2 48688067 missense variant G/A snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 12 1993 2006
dbSNP: rs121912540
rs121912540 		0.882 0.040 2 48688106 missense variant T/C snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 12 1993 2006
dbSNP: rs121912519
rs121912519 		1.000 0.040 2 48688084 missense variant C/T snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912522
rs121912522 		0.925 0.040 2 48688082 missense variant G/A;C snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 11 1993 2001
dbSNP: rs121912528
rs121912528 		1.000 0.040 2 48688679 missense variant G/A snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912531
rs121912531 		1.000 0.040 2 48688173 missense variant T/G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001