rs752077839
|
0.925 |
|
2 |
25161329 |
missense variant |
G/A
|
snv
|
8.8E-06
|
|
Familial glucocorticoid deficiency
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs752077839
|
0.925 |
|
2 |
25161329 |
missense variant |
G/A
|
snv
|
8.8E-06
|
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs768768839
|
0.807 |
0.280 |
2 |
25161679 |
missense variant |
G/A
|
snv
|
5.6E-06
|
|
21-hydroxylase deficiency
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs913377707
|
1.000 |
|
2 |
25161145 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Deficiency of reductase
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs934429785
|
1.000 |
|
2 |
25161145 |
missense variant |
T/C
|
snv
|
|
|
Deficiency of reductase
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs28932472
|
0.925 |
0.080 |
2 |
25161179 |
missense variant |
G/C
|
snv
|
2.7E-03
|
2.8E-03
|
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
|
|
0.700 |
|
0 |
|
|
rs1364647619
|
0.925 |
0.080 |
2 |
25161334 |
missense variant |
C/T
|
snv
|
|
|
Depressed mood
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1364647619
|
0.925 |
0.080 |
2 |
25161334 |
missense variant |
C/T
|
snv
|
|
|
Mental Depression
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1009388
|
1.000 |
0.040 |
2 |
25168232 |
intron variant |
G/C
|
snv
|
|
0.18
|
Congestive heart failure
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs3754860
|
1.000 |
0.040 |
2 |
25170385 |
upstream gene variant |
C/T
|
snv
|
|
0.22
|
Congestive heart failure
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs10654394
|
1.000 |
0.080 |
2 |
25161588 |
inframe insertion |
CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC
|
delins
|
3.9E-05
|
|
Substance Dependence
|
Chemically-Induced Disorders; Mental Disorders
|
0.010 |
< 0.001 |
1 |
2012 |
2012 |
rs6713532
|
1.000 |
0.080 |
2 |
25161964 |
intron variant |
T/C
|
snv
|
|
0.36
|
Cocaine Dependence
|
Chemically-Induced Disorders; Mental Disorders
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs45463492
|
1.000 |
0.160 |
2 |
25161451 |
missense variant |
C/A;T
|
snv
|
3.0E-05;
3.0E-05
|
|
Aarskog syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.020 |
1.000 |
2 |
1998 |
2006 |
rs1265342534
|
1.000 |
0.160 |
2 |
25161191 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Aarskog syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs768299768
|
0.925 |
0.200 |
2 |
25161505 |
missense variant |
C/A;T
|
snv
|
9.2E-06
|
|
Aarskog syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs775159616
|
1.000 |
0.160 |
2 |
25161311 |
missense variant |
C/T
|
snv
|
4.3E-06;
3.0E-05
|
7.0E-06
|
Aarskog syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1477692170
|
0.925 |
0.160 |
2 |
25161686 |
stop gained |
C/A;G;T
|
snv
|
1.1E-05
|
|
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs917202708
|
0.925 |
0.160 |
2 |
25161716 |
missense variant |
C/G;T
|
snv
|
|
|
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1351141519
|
0.882 |
0.200 |
2 |
25161718 |
missense variant |
G/C
|
snv
|
|
|
Congenital adrenal hyperplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1351141519
|
0.882 |
0.200 |
2 |
25161718 |
missense variant |
G/C
|
snv
|
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1351141519
|
0.882 |
0.200 |
2 |
25161718 |
missense variant |
G/C
|
snv
|
|
|
Adrenal Gland Hyperplasia II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs768768839
|
0.807 |
0.280 |
2 |
25161679 |
missense variant |
G/A
|
snv
|
5.6E-06
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs768768839
|
0.807 |
0.280 |
2 |
25161679 |
missense variant |
G/A
|
snv
|
5.6E-06
|
|
Deficiency of steroid 21-monooxygenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs768768839
|
0.807 |
0.280 |
2 |
25161679 |
missense variant |
G/A
|
snv
|
5.6E-06
|
|
Chronic active hepatitis
|
Digestive System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs768768839
|
0.807 |
0.280 |
2 |
25161679 |
missense variant |
G/A
|
snv
|
5.6E-06
|
|
Precocious pubarche
|
Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |