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: 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
dbSNP: rs149540566
rs149540566
1.000 0.080 2 25161223 missense variant T/C snv 8.5E-04 9.4E-04
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs201408477
rs201408477
0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs202042867
rs202042867
1.000 0.080 2 25161630 missense variant G/C snv 8.6E-05 4.7E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28932472
rs28932472
0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3754860
rs3754860
1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6713532
rs6713532
1.000 0.080 2 25161964 intron variant T/C snv 0.36
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs750136455
rs750136455
0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs750136455
rs750136455
0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.010 1.000 1 1998 1998
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
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
dbSNP: rs768768839
rs768768839
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs768768839
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
dbSNP: rs768768839
rs768768839
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche
Endocrine System Diseases 0.010 1.000 1 2004 2004