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: 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: 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: 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
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: rs796065034
rs796065034
POMC
1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs796065035
rs796065035
POMC
1.000 0.120 2 25161480 frameshift variant -/CC delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs1553400259
rs1553400259
POMC
1.000 0.120 2 25161754 splice acceptor variant T/G snv
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
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: 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