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: rs796065034
rs796065034
POMC
1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs1042571
rs1042571
POMC
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2012 2016
dbSNP: rs1042571
rs1042571
POMC
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 2014 2014
dbSNP: rs1042571
rs1042571
POMC
0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.010 1.000 1 2014 2014
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: 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: rs772977552
rs772977552
POMC
1.000 0.080 2 25161291 synonymous variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2007 2007
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: 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: rs28932472
rs28932472
POMC
0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
CUI: C0028754
Disease: Obesity
Obesity 		0.030 1.000 3 2002 2016
dbSNP: rs1009388
rs1009388
POMC
1.000 0.040 2 25168232 intron variant G/C snv 0.18
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2009 2009
dbSNP: rs1265342534
rs1265342534
POMC
1.000 0.160 2 25161191 missense variant G/C snv 4.0E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.010 1.000 1 2002 2002
dbSNP: rs1351141519
rs1351141519
POMC
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.010 1.000 1 2015 2015
dbSNP: rs1351141519
rs1351141519
POMC
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2015 2015
dbSNP: rs1351141519
rs1351141519
POMC
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
Adrenal Gland Hyperplasia II 		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: rs28932472
rs28932472
POMC
0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
CUI: C4016341
Disease: OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs753856820
rs753856820
POMC
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 		0.700 0