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: rs17326656
rs17326656 		2 48735152 intron variant G/T snv 0.21
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 3 2018 2019
dbSNP: rs7561278
rs7561278 		2 48727766 intron variant T/C snv 0.18
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs121912530
rs121912530 		0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2002 2002
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2011 2011
dbSNP: rs4465809
rs4465809 		2 48753368 intron variant G/T snv 0.39
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs4596023
rs4596023 		2 48728544 intron variant A/G snv 0.78
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs72618637
rs72618637 		2 48726840 intron variant T/A snv 0.17
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs121912525
rs121912525 		0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05
CUI: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
LEYDIG HYPOPLASIA, TYPE I 		0.700 0
dbSNP: rs140568136
rs140568136 		1.000 0.160 2 48723638 stop gained C/A snv 8.0E-05 1.4E-05
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		0.700 0
dbSNP: rs121912521
rs121912521 		0.925 0.200 2 48688067 missense variant G/A snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
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: 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: 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: 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: 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: rs121912520
rs121912520 		0.851 0.240 2 48688020 missense variant C/G snv
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 1995 1995
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-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 2000 2000
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: 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 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: rs13405728
rs13405728 		0.790 0.200 2 48751020 intron variant A/G snv 0.15
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015