rs7296288
|
0.851 |
0.080 |
12 |
49086185 |
upstream gene variant |
A/C
|
snv
|
|
0.50
|
Bipolar Disorder
|
Mental Disorders
|
0.710 |
1.000 |
3 |
2011 |
2014 |
rs7296288
|
0.851 |
0.080 |
12 |
49086185 |
upstream gene variant |
A/C
|
snv
|
|
0.50
|
Depressive disorder
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs7296288
|
0.851 |
0.080 |
12 |
49086185 |
upstream gene variant |
A/C
|
snv
|
|
0.50
|
Mental Depression
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs7296288
|
0.851 |
0.080 |
12 |
49086185 |
upstream gene variant |
A/C
|
snv
|
|
0.50
|
Depressed mood
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs7296288
|
0.851 |
0.080 |
12 |
49086185 |
upstream gene variant |
A/C
|
snv
|
|
0.50
|
Major Depressive Disorder
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs867798393
|
1.000 |
0.160 |
12 |
49090023 |
missense variant |
A/G
|
snv
|
|
|
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1565572949
|
0.851 |
0.160 |
12 |
49090039 |
frameshift variant |
G/-
|
del
|
|
|
Primary hypogonadism
|
Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565572949
|
0.851 |
0.160 |
12 |
49090039 |
frameshift variant |
G/-
|
del
|
|
|
Male Pseudohermaphroditism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565572949
|
0.851 |
0.160 |
12 |
49090039 |
frameshift variant |
G/-
|
del
|
|
|
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565572949
|
0.851 |
0.160 |
12 |
49090039 |
frameshift variant |
G/-
|
del
|
|
|
Testicular dysgenesis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1480612338
|
0.851 |
0.160 |
12 |
49090416 |
missense variant |
C/T
|
snv
|
4.3E-06
|
|
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1480612338
|
0.851 |
0.160 |
12 |
49090416 |
missense variant |
C/T
|
snv
|
4.3E-06
|
|
Hypospadias, perineal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1480612338
|
0.851 |
0.160 |
12 |
49090416 |
missense variant |
C/T
|
snv
|
4.3E-06
|
|
Cryptorchidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1480612338
|
0.851 |
0.160 |
12 |
49090416 |
missense variant |
C/T
|
snv
|
4.3E-06
|
|
Micropenis
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
Testicular dysgenesis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
Male Pseudohermaphroditism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
Cryptorchidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
Hypospadias, perineal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1565573786
|
0.807 |
0.160 |
12 |
49091165 |
stop gained |
G/C;T
|
snv
|
|
|
Micropenis
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs111033589
|
1.000 |
0.160 |
12 |
49091208 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs1565573892
|
1.000 |
0.200 |
12 |
49091322 |
missense variant |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs11168854
|
|
|
12 |
49091590 |
intron variant |
C/G
|
snv
|
|
0.43
|
Body mass index
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs104894346
|
1.000 |
0.200 |
12 |
49094511 |
start lost |
A/G
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|