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: rs121912992
rs121912992
DSP
1.000 0.080 6 7565478 missense variant C/G;T snv 1.9E-04
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.800 1.000 0 2013 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: rs606231294
rs606231294
DSP
1.000 6 7571471 missense variant C/T snv
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		0.800 0
dbSNP: rs606231295
rs606231295
DSP
0.925 0.120 6 7570553 missense variant C/T snv
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		0.800 0
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
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs1060500607
rs1060500607
DSP
1.000 0.080 6 7583006 frameshift variant -/T delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		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: rs1060500610
rs1060500610
DSP
1.000 0.080 6 7581012 stop gained C/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1060500613
rs1060500613
DSP
1.000 0.080 6 7571563 frameshift variant G/- delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1060500618
rs1060500618
DSP
1.000 0.080 6 7575460 stop gained C/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1135401735
rs1135401735
DSP
1.000 0.080 6 7581241 missense variant A/G snv
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.700 0
dbSNP: rs1184921987
rs1184921987
DSP
1.000 6 7571528 missense variant A/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: rs1194358112
rs1194358112
DSP
0.925 0.120 6 7584502 stop gained G/C;T snv 4.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1194358112
rs1194358112
DSP
0.925 0.120 6 7584502 stop gained G/C;T snv 4.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs121912991
rs121912991
DSP
1.000 0.080 6 7566428 stop gained C/G;T snv 4.0E-06
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II 		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: rs121912995
rs121912995
DSP
1.000 0.080 6 7571928 stop gained C/T snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		0.700 0
dbSNP: rs121912996
rs121912996
DSP
1.000 0.080 6 7583062 stop gained C/A;T snv
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.700 0
dbSNP: rs121912997
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121912997
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0