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: rs746877365
rs746877365
DSP
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 8 2008 2019
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 1999 2014
dbSNP: rs141026028
rs141026028
DSP
0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 5 2011 2017
dbSNP: rs141026028
rs141026028
DSP
0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 5 2011 2017
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2013 2017
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A 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 4 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 4 1999 2014
dbSNP: rs746877365
rs746877365
DSP
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 4 2008 2013
dbSNP: rs746877365
rs746877365
DSP
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 4 2008 2013
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: 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: 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: 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
dbSNP: rs1554108012
rs1554108012
DSP
0.882 0.120 6 7579323 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 3 2005 2014