Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1173597023
rs1173597023
POMC
1.000 0.080 2 25161441 missense variant C/G snv 4.2E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs775159616
rs775159616
POMC
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 		0.010 1.000 1 2002 2002
dbSNP: rs759506294
rs759506294
POMC
1.000 0.080 2 25161526 missense variant C/A;T snv 5.1E-06
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs768768839
rs768768839
POMC
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.010 1.000 1 2004 2004
dbSNP: rs768768839
rs768768839
POMC
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 		0.010 1.000 1 2008 2008
dbSNP: rs768768839
rs768768839
POMC
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.010 1.000 1 2004 2004
dbSNP: rs768768839
rs768768839
POMC
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.010 1.000 1 2004 2004
dbSNP: rs768768839
rs768768839
POMC
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
POMC
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 		0.010 1.000 1 2008 2008
dbSNP: rs121918111
rs121918111
POMC
1.000 0.120 2 25161572 stop gained C/A;G;T snv 6.2E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs1181875747
rs1181875747
POMC
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 		0.010 1.000 1 2016 2016
dbSNP: rs1208512558
rs1208512558
POMC
0.925 0.040 2 25161623 missense variant C/G;T snv 6.7E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2002 2002
dbSNP: rs1208512558
rs1208512558
POMC
0.925 0.040 2 25161623 missense variant C/G;T snv 6.7E-06
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.010 1.000 1 2002 2002
dbSNP: rs752077839
rs752077839
POMC
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
POMC
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: rs768299768
rs768299768
POMC
0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs768299768
rs768299768
POMC
0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs1477692170
rs1477692170
POMC
0.925 0.160 2 25161686 stop gained C/A;G;T snv 1.1E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 1.000 1 2017 2017
dbSNP: rs1477692170
rs1477692170
POMC
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 		0.010 1.000 1 2017 2017
dbSNP: rs1449052677
rs1449052677
POMC
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2002 2002
dbSNP: rs1449052677
rs1449052677
POMC
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2015 2015
dbSNP: rs1449052677
rs1449052677
POMC
0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.010 1.000 1 2002 2002
dbSNP: rs776588032
rs776588032
POMC
1.000 0.080 2 25164664 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2008 2008
dbSNP: rs750136455
rs750136455
POMC
0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 1998 1998
dbSNP: rs750136455
rs750136455
POMC
0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 1998 1998