Source: CLINVAR

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: rs1554108012
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 3 2005 2014
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2006 2015
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2006 2015
dbSNP: rs727503000
rs727503000
DSP
1.000 0.080 6 7579663 frameshift variant -/A delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2010 2016
dbSNP: rs727503000
rs727503000
DSP
1.000 0.080 6 7579663 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2010 2016
dbSNP: rs727503003
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2010 2011
dbSNP: rs727503003
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2010 2011
dbSNP: rs1554108859
rs1554108859
DSP
0.925 0.120 6 7583727 frameshift variant -/A delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2013 2017
dbSNP: rs1554108859
rs1554108859
DSP
0.925 0.120 6 7583727 frameshift variant -/A delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2013 2017
dbSNP: rs1561701401
rs1561701401
DSP
0.925 0.120 6 7583032 frameshift variant CA/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2013 2017
dbSNP: rs1561701401
rs1561701401
DSP
0.925 0.120 6 7583032 frameshift variant CA/- delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2013 2017
dbSNP: rs1561702640
rs1561702640
DSP
0.925 0.120 6 7583764 frameshift variant TCAG/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2011 2017
dbSNP: rs1561702640
rs1561702640
DSP
0.925 0.120 6 7583764 frameshift variant TCAG/- delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2011 2017
dbSNP: rs1561703363
rs1561703363
DSP
0.925 0.120 6 7584337 frameshift variant A/- del
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2011 2017
dbSNP: rs1561703363
rs1561703363
DSP
0.925 0.120 6 7584337 frameshift variant A/- del
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2011 2017
dbSNP: rs1561704475
rs1561704475
DSP
0.925 0.120 6 7585133 frameshift variant CA/- delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2011 2017
dbSNP: rs1561704475
rs1561704475
DSP
0.925 0.120 6 7585133 frameshift variant CA/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2011 2017
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2006 2014
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2006 2014
dbSNP: rs397516956
rs397516956
DSP
6 7562762 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2000 2006
dbSNP: rs794728137
rs794728137
DSP
0.807 0.120 6 7565507 frameshift variant -/G delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2015 2017
dbSNP: rs794728137
rs794728137
DSP
0.807 0.120 6 7565507 frameshift variant -/G delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2015 2017
dbSNP: rs869025392
rs869025392
DSP
1.000 0.080 6 7580993 missense variant G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 2 2011 2013
dbSNP: rs876657638
rs876657638
DSP
0.882 0.120 6 7571554 stop gained C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 2 2011 2015
dbSNP: rs886039343
rs886039343
DSP
0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 2 2010 2014