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: rs606231293
rs606231293
DSP
1.000 6 7571496 inframe insertion -/GGAAAATACAGTCTCAGTTCACCGATGCCC delins
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		0.700 0
dbSNP: rs193922668
rs193922668
DSP
6 7568551 inframe deletion ATT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs587782927
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.700 0
dbSNP: rs587782927
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.700 0
dbSNP: rs587782927
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs587782927
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs1057517903
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 3 2010 2015
dbSNP: rs1057517903
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 3 2010 2015
dbSNP: rs113726158
rs113726158
DSP
0.925 0.120 6 7565357 splice acceptor variant A/G;T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 3 2010 2015
dbSNP: rs113726158
rs113726158
DSP
0.925 0.120 6 7565357 splice acceptor variant A/G;T snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 3 2010 2015
dbSNP: rs1554106830
rs1554106830
DSP
0.925 0.120 6 7568435 splice acceptor variant A/G snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 3 2010 2015
dbSNP: rs1554106830
rs1554106830
DSP
0.925 0.120 6 7568435 splice acceptor variant A/G snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 3 2010 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: rs1060500609
rs1060500609
DSP
1.000 0.080 6 7569185 splice acceptor variant G/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs794728111
rs794728111
DSP
1.000 0.080 6 7567779 splice acceptor variant A/G;T snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1554106743
rs1554106743
DSP
0.925 0.120 6 7567819 frameshift variant G/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 3 2005 2014
dbSNP: rs1554106743
rs1554106743
DSP
0.925 0.120 6 7567819 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 3 2005 2014
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