rs121918111
|
1.000 |
0.120 |
2 |
25161572 |
stop gained |
C/A;G;T
|
snv
|
6.2E-06
|
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121918112
|
1.000 |
0.120 |
2 |
25161734 |
stop gained |
T/A
|
snv
|
|
7.0E-06
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553400259
|
1.000 |
0.120 |
2 |
25161754 |
splice acceptor variant |
T/G
|
snv
|
|
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs753856820
|
1.000 |
0.120 |
2 |
25164783 |
5 prime UTR variant |
G/T
|
snv
|
2.8E-05
|
1.4E-05
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs796065034
|
1.000 |
0.120 |
2 |
25161452 |
frameshift variant |
G/-
|
delins
|
|
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs796065035
|
1.000 |
0.120 |
2 |
25161480 |
frameshift variant |
-/CC
|
delins
|
|
|
Proopiomelanocortin Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs28932472
|
0.925 |
0.080 |
2 |
25161179 |
missense variant |
G/C
|
snv
|
2.7E-03
|
2.8E-03
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.030 |
1.000 |
3 |
2002 |
2016 |
rs1042571
|
0.882 |
0.120 |
2 |
25161018 |
3 prime UTR variant |
G/A
|
snv
|
|
0.16
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.020 |
1.000 |
2 |
2012 |
2016 |
rs201408477
|
0.925 |
0.080 |
2 |
25161455 |
missense variant |
A/G
|
snv
|
1.8E-04
|
1.6E-04
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.020 |
1.000 |
2 |
2008 |
2015 |
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 |
rs767700712
|
1.000 |
0.080 |
2 |
25164690 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.020 |
1.000 |
2 |
2008 |
2018 |
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 |
rs1042571
|
0.882 |
0.120 |
2 |
25161018 |
3 prime UTR variant |
G/A
|
snv
|
|
0.16
|
Anorexia Nervosa
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1042571
|
0.882 |
0.120 |
2 |
25161018 |
3 prime UTR variant |
G/A
|
snv
|
|
0.16
|
Bulimia Nervosa
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2014 |
2014 |
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 |
rs1173597023
|
1.000 |
0.080 |
2 |
25161441 |
missense variant |
C/G
|
snv
|
4.2E-06
|
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1181875747
|
1.000 |
0.080 |
2 |
25161629 |
stop gained |
G/A;C;T
|
snv
|
6.7E-06;
1.3E-05
|
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1208512558
|
0.925 |
0.040 |
2 |
25161623 |
missense variant |
C/G;T
|
snv
|
6.7E-06
|
|
Paraganglioma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1208512558
|
0.925 |
0.040 |
2 |
25161623 |
missense variant |
C/G;T
|
snv
|
6.7E-06
|
|
Pheochromocytoma, Extra-Adrenal
|
Neoplasms
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1237859972
|
1.000 |
0.080 |
2 |
25161178 |
missense variant |
C/T
|
snv
|
|
|
Panhypopituitarism
|
Nervous System Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs12473543
|
1.000 |
0.120 |
2 |
25164312 |
intron variant |
T/G
|
snv
|
|
0.24
|
Polycystic Ovary Syndrome
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
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 |
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 |