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: rs1057156731
rs1057156731
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 1.000 1 2016 2016
dbSNP: rs1057156731
rs1057156731
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 1.000 1 2016 2016
dbSNP: rs1057156731
rs1057156731
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.010 1.000 1 2016 2016
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2015 2015
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.010 1.000 1 2003 2003
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
0.010 1.000 1 2013 2013
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.010 1.000 1 2009 2009
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 1.000 1 2000 2000
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 1.000 1 2013 2013
dbSNP: rs11578696
rs11578696
1.000 0.080 1 156087177 intron variant A/G snv 8.4E-02
CUI: C0028754
Disease: Obesity
Obesity
0.010 1.000 1 2007 2007
dbSNP: rs1190613858
rs1190613858
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0423773
Disease: Scaly skin
Scaly skin
0.010 1.000 1 2014 2014
dbSNP: rs1190613858
rs1190613858
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.010 1.000 1 2012 2012
dbSNP: rs121912493
rs121912493
0.925 0.080 1 156136374 missense variant G/A snv 2.1E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.010 1.000 1 2000 2000
dbSNP: rs121912493
rs121912493
0.925 0.080 1 156136374 missense variant G/A snv 2.1E-05
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
0.010 1.000 1 2000 2000
dbSNP: rs1270221130
rs1270221130
1.000 0.080 1 156136075 missense variant A/G snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.010 1.000 1 2005 2005
dbSNP: rs1321220871
rs1321220871
0.925 0.120 1 156135300 missense variant G/A;T snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.010 1.000 1 2018 2018
dbSNP: rs1321220871
rs1321220871
0.925 0.120 1 156135300 missense variant G/A;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.010 1.000 1 2018 2018
dbSNP: rs1339374391
rs1339374391
1 156135973 synonymous variant C/T snv 4.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.010 1.000 1 2001 2001
dbSNP: rs138592977
rs138592977
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions
0.010 1.000 1 2012 2012
dbSNP: rs138592977
rs138592977
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.010 1.000 1 2012 2012
dbSNP: rs138592977
rs138592977
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 1.000 1 2012 2012
dbSNP: rs1385994420
rs1385994420
1.000 0.120 1 156136342 missense variant G/A snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.010 1.000 1 2010 2010
dbSNP: rs141490569
rs141490569
1.000 0.040 1 156136258 missense variant G/A snv 8.0E-05 9.8E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 1.000 1 2015 2015
dbSNP: rs142000963
rs142000963
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 1.000 1 2012 2012