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: rs121434534
rs121434534
1.000 0.240 15 51211017 missense variant G/A snv 1.2E-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 0.800 1.000 4 1993 2014
dbSNP: rs121434536
rs121434536
1.000 0.240 15 51212460 missense variant G/A snv 8.0E-06 1.4E-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 0.800 1.000 4 1993 2014
dbSNP: rs78310315
rs78310315
1.000 0.240 15 51211010 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 0.800 1.000 4 1993 2014
dbSNP: rs80051519
rs80051519
1.000 0.240 15 51212489 missense variant C/T snv 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 0.800 0
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: rs121434538
rs121434538
1.000 0.240 15 51222349 missense variant C/T snv 8.0E-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 0.700 0
dbSNP: rs786205107
rs786205107
1.000 0.240 15 51218539 splice donor variant A/G snv
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 0.700 0
dbSNP: rs786205108
rs786205108
1.000 0.240 15 51212359 frameshift variant G/- delins
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 0.700 0
dbSNP: rs786205109
rs786205109
1.000 0.240 15 51236858 splice donor variant C/T snv
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 0.700 0
dbSNP: rs786205110
rs786205110
1.000 0.240 15 51218658 splice region variant G/T snv
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 0.700 0
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