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: 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: 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: 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: 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: rs3754860
rs3754860
POMC
1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2009 2009
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: 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: rs767700712
rs767700712
POMC
1.000 0.080 2 25164690 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2008 2018
dbSNP: rs10654394
rs10654394
POMC
1.000 0.080 2 25161588 inframe insertion CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC delins 3.9E-05
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		0.010 < 0.001 1 2012 2012
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: 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: 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: 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: 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: rs6713532
rs6713532
POMC
1.000 0.080 2 25161964 intron variant T/C snv 0.36
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		0.010 1.000 1 2009 2009
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: 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