POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
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: rs1009388
rs1009388
1.000 0.040 2 25168232 intron variant G/C snv 0.18
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1042571
rs1042571
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1042571
rs1042571
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1042571
rs1042571
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa
Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs10654394
rs10654394
1.000 0.080 2 25161588 inframe insertion CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC delins 3.9E-05
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs1173597023
rs1173597023
1.000 0.080 2 25161441 missense variant C/G snv 4.2E-06
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1181875747
rs1181875747
1.000 0.080 2 25161629 stop gained G/A;C;T snv 6.7E-06; 1.3E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1208512558
rs1208512558
0.925 0.040 2 25161623 missense variant C/G;T snv 6.7E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1208512558
rs1208512558
0.925 0.040 2 25161623 missense variant C/G;T snv 6.7E-06
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs121918111
rs121918111
1.000 0.120 2 25161572 stop gained C/A;G;T snv 6.2E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918112
rs121918112
1.000 0.120 2 25161734 stop gained T/A snv 7.0E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1237859972
rs1237859972
1.000 0.080 2 25161178 missense variant C/T snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12473543
rs12473543
1.000 0.120 2 25164312 intron variant T/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1265342534
rs1265342534
1.000 0.160 2 25161191 missense variant G/C snv 4.0E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1351141519
rs1351141519
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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
dbSNP: rs1351141519
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
dbSNP: rs1351141519
rs1351141519
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
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
dbSNP: rs1364647619
rs1364647619
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood
Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs1364647619
rs1364647619
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1364647619
rs1364647619
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs1449052677
rs1449052677
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1449052677
rs1449052677
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1449052677
rs1449052677
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1477692170
rs1477692170
0.925 0.160 2 25161686 stop gained C/A;G;T snv 1.1E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1477692170
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