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: 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: rs397516956
rs397516956
DSP
6 7562762 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2000 2006
dbSNP: rs1554108609
rs1554108609
DSP
0.925 0.120 6 7582719 frameshift variant -/A delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1554108609
rs1554108609
DSP
0.925 0.120 6 7582719 frameshift variant -/A delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs1561687796
rs1561687796
DSP
0.925 0.120 6 7568448 frameshift variant -/A delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1561687796
rs1561687796
DSP
0.925 0.120 6 7568448 frameshift variant -/A delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs1561698714
rs1561698714
DSP
6 7580519 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516927
rs397516927
DSP
6 7577007 frameshift variant -/A 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: rs1554108152
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		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: rs727502994
rs727502994
DSP
6 7581565 splice donor variant -/AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1561701721
rs1561701721
DSP
6 7583201 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs794728148
rs794728148
DSP
0.925 0.120 6 7583772 frameshift variant -/CT ins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs794728148
rs794728148
DSP
0.925 0.120 6 7583772 frameshift variant -/CT ins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
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