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: rs768768839
rs768768839 		0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		Digestive System 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
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		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: C0268287
Disease: Deficiency of steroid 21-monooxygenase
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
dbSNP: rs772977552
rs772977552 		1.000 0.080 2 25161291 synonymous variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs775159616
rs775159616 		1.000 0.160 2 25161311 missense variant C/T snv 4.3E-06; 3.0E-05 7.0E-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: rs776588032
rs776588032 		1.000 0.080 2 25164664 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80326661
rs80326661 		0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs80326661
rs80326661 		0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs913377707
rs913377707 		1.000 2 25161145 frameshift variant T/- del 1.4E-05
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 1.000 1 2008 2008
dbSNP: rs917202708
rs917202708 		0.925 0.160 2 25161716 missense variant C/G;T snv
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs917202708
rs917202708 		0.925 0.160 2 25161716 missense variant C/G;T snv
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: rs934429785
rs934429785 		1.000 2 25161145 missense variant T/C snv
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 1.000 1 2008 2008