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: rs267607578
rs267607578
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 24 1999 2014
dbSNP: rs56984562
rs56984562
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 24 1999 2017
dbSNP: rs28933090
rs28933090
0.925 0.160 1 156115172 missense variant T/A;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 1.000 20 1999 2017
dbSNP: rs28933091
rs28933091
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 1.000 20 1999 2017
dbSNP: rs57045855
rs57045855
0.882 0.040 1 156134464 missense variant A/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.720 1.000 18 1999 2012
dbSNP: rs59026483
rs59026483
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.710 0.944 18 1999 2012
dbSNP: rs61661343
rs61661343
0.851 0.040 1 156130687 missense variant T/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.720 1.000 18 1999 2019
dbSNP: rs267607560
rs267607560
0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs267607571
rs267607571
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs267607572
rs267607572
1.000 0.040 1 156134518 missense variant T/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs28933092
rs28933092
1.000 0.040 1 156134497 missense variant A/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 1.000 17 1999 2012
dbSNP: rs28933093
rs28933093
0.882 0.160 1 156130741 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 17 1999 2012
dbSNP: rs56816490
rs56816490
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs59040894
rs59040894
0.925 0.120 1 156115184 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs59065411
rs59065411
1.000 0.040 1 156115207 missense variant A/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs61195471
rs61195471
0.827 0.160 1 156134496 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 1.000 17 1999 2012
dbSNP: rs397517889
rs397517889
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 14 2000 2014
dbSNP: rs56984562
rs56984562
0.827 0.200 1 156137666 missense variant C/A;G;T snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 14 2003 2017
dbSNP: rs59332535
rs59332535
0.827 0.160 1 156134911 missense variant G/A snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 1.000 13 2000 2014
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 1.000 12 1991 2013
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.700 1.000 12 1991 2013
dbSNP: rs58912633
rs58912633
0.851 0.240 1 156130688 missense variant C/G;T snv
CUI: C0033300
Disease: Progeria
Progeria
0.730 1.000 12 2003 2015
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014
dbSNP: rs1553265342
rs1553265342
1.000 0.080 1 156134909 missense variant GC/TT mnv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 11 2000 2015
dbSNP: rs61282106
rs61282106
0.925 0.080 1 156136934 missense variant G/A snv
Familial Partial Lipodystrophy, Type 2
0.800 1.000 11 2000 2014