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: 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: rs913377707
rs913377707
POMC
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
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
dbSNP: rs1237859972
rs1237859972
POMC
1.000 0.080 2 25161178 missense variant C/T snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		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: 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: 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: 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: 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: 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: 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: 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: rs1364647619
rs1364647619
POMC
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 1.000 1 2011 2011
dbSNP: rs1364647619
rs1364647619
POMC
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2011 2011
dbSNP: rs1364647619
rs1364647619
POMC
0.925 0.080 2 25161334 missense variant C/T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2011 2011
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: rs45463492
rs45463492
POMC
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 		0.020 1.000 2 1998 2006
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: rs201408477
rs201408477
POMC
0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2008 2015
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