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: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.030 1.000 3 2000 2011
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: rs121912526
rs121912526 		0.882 0.040 2 48688604 missense variant A/G snv
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		Endocrine System Diseases 0.020 1.000 2 1996 2002
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0023600
Disease: Leydig cell hyperplasia
Leydig cell hyperplasia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2000 2002
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		Endocrine System Diseases 0.020 1.000 2 2011 2017
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: rs10495960
rs10495960 		1.000 0.120 2 48732893 missense variant G/A snv 0.18 0.14
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121912518
rs121912518 		0.882 0.160 2 48688064 missense variant T/C;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
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: rs121912520
rs121912520 		0.851 0.240 2 48688020 missense variant C/G snv
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1998 1998
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: rs121912522
rs121912522 		0.925 0.040 2 48688082 missense variant G/A;C snv
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121912523
rs121912523 		0.925 0.240 2 48688162 stop gained G/T snv 8.0E-06
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121912526
rs121912526 		0.882 0.040 2 48688604 missense variant A/G snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 1996 1996
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: rs121912530
rs121912530 		0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		Male Urogenital Diseases 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
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: rs121912534
rs121912534 		0.882 0.040 2 48688094 missense variant G/A;T snv
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121912534
rs121912534 		0.882 0.040 2 48688094 missense variant G/A;T snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121912535
rs121912535 		0.827 0.240 2 48688427 missense variant A/C snv
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2000 2000