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: 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: 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: 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: 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: rs1553400259
rs1553400259 		1.000 0.120 2 25161754 splice acceptor variant T/G snv
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs753856820
rs753856820 		1.000 0.120 2 25164783 5 prime UTR variant G/T snv 2.8E-05 1.4E-05
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs796065034
rs796065034 		1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs796065035
rs796065035 		1.000 0.120 2 25161480 frameshift variant -/CC delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28932472
rs28932472 		0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2016
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: rs201408477
rs201408477 		0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2015
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: 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: 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: 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: 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: 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: 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: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
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: 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: 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: 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