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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 1.000 1 2008 2008
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs768768839
rs768768839 		0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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: 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: 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: 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: 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: 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
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: 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