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: 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: rs149540566
rs149540566
POMC
1.000 0.080 2 25161223 missense variant T/C snv 8.5E-04 9.4E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2006 2006
dbSNP: rs201408477
rs201408477
POMC
0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 1.000 1 2015 2015
dbSNP: rs202042867
rs202042867
POMC
1.000 0.080 2 25161630 missense variant G/C snv 8.6E-05 4.7E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs28932472
rs28932472
POMC
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 		0.010 1.000 1 2006 2006
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
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: 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: 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: 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: 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: 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: rs80326661
rs80326661
POMC
0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 1998 1998
dbSNP: rs80326661
rs80326661
POMC
0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 1998 1998
dbSNP: rs917202708
rs917202708
POMC
0.925 0.160 2 25161716 missense variant C/G;T snv
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 1.000 1 2017 2017
dbSNP: rs917202708
rs917202708
POMC
0.925 0.160 2 25161716 missense variant C/G;T snv
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 1.000 1 2017 2017
dbSNP: rs934429785
rs934429785
POMC
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