Disease: Aromatase deficiency ×
Source: BEFREE ×
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: rs765057534
rs765057534 		0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs199845027
rs199845027 		1.000 0.240 15 51236913 missense variant T/C snv 9.9E-05 2.8E-05
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs759973029
rs759973029 		1.000 0.240 15 51210968 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs762631156
rs762631156 		1.000 0.240 15 51212459 missense variant C/A;T snv 4.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013