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: 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: rs121912993
rs121912993
DSP
1.000 0.080 6 7565442 missense variant T/G snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		0.800 0
dbSNP: rs869025398
rs869025398
DSP
6 7567451 splice donor variant T/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1236464864
rs1236464864
DSP
0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 1 2015 2015
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: rs1236464864
rs1236464864
DSP
0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 0
dbSNP: rs1554107098
rs1554107098
DSP
1.000 6 7571546 missense variant T/C;G snv
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: rs774514264
rs774514264
DSP
1.000 0.080 6 7574797 splice donor variant T/C snv 4.0E-06 1.4E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
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: rs772646601
rs772646601
DSP
1.000 0.080 6 7579538 stop gained T/A;C snv 8.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs121912994
rs121912994
DSP
1.000 0.080 6 7574786 stop gained T/A snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		0.700 0
dbSNP: rs727503001
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727503001
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397514045
rs397514045
DSP
1.000 0.120 6 7585040 frameshift variant T/- delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs397516913
rs397516913
DSP
6 7567781 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880024
rs730880024
DSP
1.000 0.080 6 7584505 frameshift variant T/- delins
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.700 0
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: 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: rs1554107741
rs1554107741
DSP
0.925 0.120 6 7576457 splice donor variant 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: rs1554107741
rs1554107741
DSP
0.925 0.120 6 7576457 splice donor variant 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