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: rs1236464864
rs1236464864
DSP
0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2015 2015
dbSNP: rs140474226
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2016 2016
dbSNP: rs140474226
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2016 2016
dbSNP: rs1487814687
rs1487814687
DSP
0.925 0.120 6 7582927 frameshift variant GAGA/-;GA delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2000 2000
dbSNP: rs1487814687
rs1487814687
DSP
0.925 0.120 6 7582927 frameshift variant GAGA/-;GA delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2000 2000
dbSNP: rs1554106742
rs1554106742
DSP
0.925 0.120 6 7567802 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 1 2016 2016
dbSNP: rs1554106742
rs1554106742
DSP
0.925 0.120 6 7567802 frameshift variant A/- del
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2016 2016
dbSNP: rs1554108621
rs1554108621
DSP
0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2000 2000
dbSNP: rs1554108621
rs1554108621
DSP
0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2000 2000
dbSNP: rs397516915
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2012 2012
dbSNP: rs397516929
rs397516929
DSP
1.000 0.080 6 7577860 missense variant T/A;C snv 2.8E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2009 2009
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: rs397516973
rs397516973
DSP
6 7565448 stop gained C/A;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2006 2006
dbSNP: rs727505115
rs727505115
DSP
6 7572069 splice donor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2010 2010
dbSNP: rs730880092
rs730880092
DSP
6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2010 2010
dbSNP: rs774763657
rs774763657
DSP
0.925 0.120 6 7582941 frameshift variant AGTC/- delins 1.2E-05
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2000 2000
dbSNP: rs774763657
rs774763657
DSP
0.925 0.120 6 7582941 frameshift variant AGTC/- delins 1.2E-05
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2000 2000
dbSNP: rs794728124
rs794728124
DSP
0.925 0.120 6 7581402 stop gained C/T snv 7.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2015 2015
dbSNP: rs794728124
rs794728124
DSP
0.925 0.120 6 7581402 stop gained C/T snv 7.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 1 2015 2015
dbSNP: rs1057517903
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.700 0