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: rs58978449
rs58978449
1 156134943 inframe deletion AAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2000 2001
dbSNP: rs111569862
rs111569862
1 156137653 splice acceptor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2008 2016
dbSNP: rs267607593
rs267607593
1 156134964 missense variant T/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2003 2008
dbSNP: rs397517915
rs397517915
1 156135922 frameshift variant C/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2000 2012
dbSNP: rs58389804
rs58389804
1 156136049 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2006 2011
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: rs144851946
rs144851946
1 156138701 missense variant G/A;T snv 1.4E-04; 4.0E-06
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2017 2017
dbSNP: rs1471907518
rs1471907518
1 156137144 frameshift variant -/C delins
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle
0.010 1.000 1 2013 2013
dbSNP: rs267607584
rs267607584
1 156134821 missense variant A/C;G snv 4.0E-06
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
0.010 1.000 1 2019 2019
dbSNP: rs267607622
rs267607622
1 156130735 stop gained G/A;C;T snv 4.2E-06
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
0.010 1.000 1 2019 2019
dbSNP: rs373584456
rs373584456
1 156136335 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2017 2017
dbSNP: rs373721390
rs373721390
1 156114996 synonymous variant C/T snv 2.2E-05 2.8E-05
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 1.000 1 2012 2012
dbSNP: rs374726751
rs374726751
1 156136245 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2017 2017
dbSNP: rs374926367
rs374926367
1 156139089 missense variant A/G snv 1.2E-04 1.0E-04
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2017 2017
dbSNP: rs397517904
rs397517904
1 156130774 splice donor variant G/A;C;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2013 2013
dbSNP: rs397517909
rs397517909
1 156134949 stop gained G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2000 2000
dbSNP: rs584025
rs584025
1 156118735 intron variant C/T snv 0.13
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs59564495
rs59564495
1 156135231 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2007 2007
dbSNP: rs7542186
rs7542186
1 156091431 intron variant G/C;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs771065515
rs771065515
1 156115240 missense variant A/G snv 2.5E-05 7.0E-06
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 1.000 1 2017 2017
dbSNP: rs771065515
rs771065515
1 156115240 missense variant A/G snv 2.5E-05 7.0E-06
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2017 2017
dbSNP: rs794728593
rs794728593
1 156134933 synonymous variant G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2017 2017
dbSNP: rs794728597
rs794728597
1 156130624 inframe deletion AAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2012 2012
dbSNP: rs267607577
rs267607577
1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs267607577
rs267607577
1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0