Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs11701453
rs11701453
RUNX1
1 21 34966619 intron variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs7597774
rs7597774
ADD2
1 2 70716718 intron variant A/C snv 0.49 0.700 1.000 1 2010 2010
dbSNP: rs9262635
rs9262635
HCG22
2 1.000 0.080 6 31057702 intron variant A/G snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs9262636
rs9262636
HCG22
2 1.000 0.080 6 31058071 intron variant A/G snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs4947296
rs4947296 		5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs10859313
rs10859313 		1 12 92411657 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs150974575
rs150974575
DES
3 1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 0.700 1.000 9 2000 2013
dbSNP: rs267607554
rs267607554
LMNA
3 1.000 0.080 1 156135925 stop gained C/T snv 0.700 1.000 6 2006 2014
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.710 1.000 6 2001 2020
dbSNP: rs397516943
rs397516943
DSP
4 0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 0.700 1.000 5 2013 2017
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2011
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
4 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 0.700 1.000 4 2012 2019
dbSNP: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs387906875
rs387906875
BAG3
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs397516355
rs397516355
TNNI3
1 19 55154035 stop gained C/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 1.000 3 2006 2015
dbSNP: rs397517580
rs397517580
TTN ; TTN-AS1
1 2 178621517 stop gained G/A snv 7.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs56816490
rs56816490
LMNA
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 3 2002 2009
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
2 1.000 0.040 2 178604049 stop gained C/T snv 0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
4 0.882 0.160 2 178605642 stop gained C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
2 1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 0.700 1.000 2 2012 2014
dbSNP: rs267607618
rs267607618
LMNA
2 1.000 0.080 1 156136350 stop gained C/T snv 0.700 1.000 2 2009 2013