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: rs141026028
rs141026028
DSP
0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-06
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 5 2011 2017
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
Cardiomyopathy dilated with Woolly hair and keratoderma
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
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
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
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
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
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
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 3 2010 2015
dbSNP: rs1554108012
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 3 2005 2014
dbSNP: rs1554108859
rs1554108859
DSP
0.925 0.120 6 7583727 frameshift variant -/A delins
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
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2013 2017
dbSNP: rs1561702640
rs1561702640
DSP
0.925 0.120 6 7583764 frameshift variant TCAG/- delins
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2011 2017
dbSNP: rs1561703363
rs1561703363
DSP
0.925 0.120 6 7584337 frameshift variant A/- del
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2011 2017
dbSNP: rs1561704475
rs1561704475
DSP
0.925 0.120 6 7585133 frameshift variant CA/- delins
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2011 2017
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2006 2014
dbSNP: rs794728137
rs794728137
DSP
0.807 0.120 6 7565507 frameshift variant -/G delins
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2015 2017
dbSNP: rs886039343
rs886039343
DSP
0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 2 2010 2014
dbSNP: rs1236464864
rs1236464864
DSP
0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2015 2015
dbSNP: rs140474226
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2016 2016
dbSNP: rs1487814687
rs1487814687
DSP
0.925 0.120 6 7582927 frameshift variant GAGA/-;GA delins
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2000 2000
dbSNP: rs1554106742
rs1554106742
DSP
0.925 0.120 6 7567802 frameshift variant A/- del
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2016 2016
dbSNP: rs1554108621
rs1554108621
DSP
0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2000 2000
dbSNP: rs397516943
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2013 2013
dbSNP: rs774763657
rs774763657
DSP
0.925 0.120 6 7582941 frameshift variant AGTC/- delins 1.2E-05
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2000 2000
dbSNP: rs794728124
rs794728124
DSP
0.925 0.120 6 7581402 stop gained C/T snv 7.0E-06
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1.000 1 2015 2015