rs121434534
|
1.000 |
0.240 |
15 |
51211017 |
missense variant |
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
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 |
rs121434536
|
1.000 |
0.240 |
15 |
51212460 |
missense variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
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 |
rs78310315
|
1.000 |
0.240 |
15 |
51211010 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
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 |
rs80051519
|
1.000 |
0.240 |
15 |
51212489 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
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 |
|
|
rs765057534
|
0.851 |
0.240 |
15 |
51222402 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
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 |
rs121434538
|
1.000 |
0.240 |
15 |
51222349 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
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 |
|
|
rs786205107
|
1.000 |
0.240 |
15 |
51218539 |
splice donor variant |
A/G
|
snv
|
|
|
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 |
|
|
rs786205108
|
1.000 |
0.240 |
15 |
51212359 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs786205109
|
1.000 |
0.240 |
15 |
51236858 |
splice donor variant |
C/T
|
snv
|
|
|
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 |
|
|
rs786205110
|
1.000 |
0.240 |
15 |
51218658 |
splice region variant |
G/T
|
snv
|
|
|
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 |
|
|
rs199845027
|
1.000 |
0.240 |
15 |
51236913 |
missense variant |
T/C
|
snv
|
9.9E-05
|
2.8E-05
|
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 |
rs759973029
|
1.000 |
0.240 |
15 |
51210968 |
missense variant |
A/G
|
snv
|
2.4E-05
|
7.0E-06
|
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 |
rs762631156
|
1.000 |
0.240 |
15 |
51212459 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
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 |