Disease: Leydig Cell Hypoplasia ×
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: 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: 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: 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