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: rs121912998
rs121912998
DSP ; LOC101928076
1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C0011071
Disease: Sudden death
Sudden death 		0.700 1.000 1 2016 2016
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2016 2016
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		0.700 0
dbSNP: rs727502993
rs727502993
DSP
1.000 0.080 6 7555752 frameshift variant -/AC delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397516923
rs397516923
DSP
1.000 0.080 6 7555761 stop gained C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1554105614
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1554105614
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
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
dbSNP: rs886039343
rs886039343
DSP
0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 2 2010 2014
dbSNP: rs794728136
rs794728136
DSP
1.000 0.080 6 7555820 frameshift variant T/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs794728136
rs794728136
DSP
1.000 0.080 6 7555820 frameshift variant T/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1561680649
rs1561680649
DSP
0.925 0.120 6 7558171 stop gained GT/AA mnv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1561680649
rs1561680649
DSP
0.925 0.120 6 7558171 stop gained GT/AA mnv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs1554105911
rs1554105911
DSP
1.000 0.080 6 7559267 frameshift variant C/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2013 2017
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2013 2013
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2013 2013
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2013 2013
dbSNP: rs727504738
rs727504738
DSP
6 7559294 frameshift variant CC/AGCTCGAGTCCCTCG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397516945
rs397516945
DSP
6 7559337 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
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: 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: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0