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: rs45463492
rs45463492 		1.000 0.160 2 25161451 missense variant C/A;T snv 3.0E-05; 3.0E-05
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 1.000 2 1998 2006
dbSNP: rs767700712
rs767700712 		1.000 0.080 2 25164690 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2018
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: 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: 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
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
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
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
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
dbSNP: rs752077839
rs752077839 		0.925 2 25161329 missense variant G/A snv 8.8E-06
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs752077839
rs752077839 		0.925 2 25161329 missense variant G/A snv 8.8E-06
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2005 2005
dbSNP: rs759506294
rs759506294 		1.000 0.080 2 25161526 missense variant C/A;T snv 5.1E-06
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768299768
rs768299768 		0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-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 2008 2008
dbSNP: rs768299768
rs768299768 		0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014