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: rs121918111
rs121918111
1.000 0.120 2 25161572 stop gained C/A;G;T snv 6.2E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
0.700 0
dbSNP: rs121918112
rs121918112
1.000 0.120 2 25161734 stop gained T/A snv 7.0E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
0.700 0
dbSNP: rs1553400259
rs1553400259
1.000 0.120 2 25161754 splice acceptor variant T/G snv
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
0.700 0
dbSNP: rs28932472
rs28932472
0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs753856820
rs753856820
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: rs796065034
rs796065034
1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
0.700 0
dbSNP: rs796065035
rs796065035
1.000 0.120 2 25161480 frameshift variant -/CC delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
0.700 0
dbSNP: rs28932472
rs28932472
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: rs1042571
rs1042571
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: rs201408477
rs201408477
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: rs45463492
rs45463492
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: rs767700712
rs767700712
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: rs1009388
rs1009388
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: rs1042571
rs1042571
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
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: rs10654394
rs10654394
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
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
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: rs1208512558
rs1208512558
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
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: rs1237859972
rs1237859972
1.000 0.080 2 25161178 missense variant C/T snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.010 1.000 1 2016 2016
dbSNP: rs12473543
rs12473543
1.000 0.120 2 25164312 intron variant T/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 1.000 1 2013 2013
dbSNP: rs1265342534
rs1265342534
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
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
0.882 0.200 2 25161718 missense variant G/C snv
3 beta-Hydroxysteroid dehydrogenase deficiency
0.010 1.000 1 2015 2015