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: rs2234962
rs2234962
BAG3
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.800 1.000 1 2011 2011
dbSNP: rs74315379
rs74315379
TNNT2
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.720 1.000 13 2001 2016
dbSNP: rs74315380
rs74315380
TNNT2
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.720 1.000 8 2003 2016
dbSNP: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.720 1.000 6 2005 2010
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.710 1.000 10 2003 2018
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.710 1.000 9 2008 2012
dbSNP: rs59301204
rs59301204
LMNA
4 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.710 1.000 9 2007 2018
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: rs28933091
rs28933091
LMNA
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 5 1999 2007
dbSNP: rs387907218
rs387907218
TAZ
2 1.000 0.120 X 154420676 missense variant G/A;C snv 0.710 1.000 5 1973 2018
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.710 1.000 4 2011 2017
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
dbSNP: rs45578238
rs45578238
TNNT2
4 0.882 0.080 1 201361971 inframe deletion CTT/- delins 0.700 1.000 15 2000 2019
dbSNP: rs397517889
rs397517889
LMNA
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 14 2000 2014
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2012 2017
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
4 1.000 0.080 14 23417174 missense variant G/A snv 0.700 1.000 11 2004 2015
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: rs267607483
rs267607483
DES
2 1.000 0.160 2 219420349 splice region variant A/G;T snv 0.700 1.000 7 2000 2013
dbSNP: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 7 1998 2017
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 7 2006 2012
dbSNP: rs121913642
rs121913642
MYH7
3 0.925 0.080 14 23427879 missense variant A/G snv 0.700 1.000 6 1989 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: rs61444459
rs61444459
LMNA
5 0.851 0.160 1 156137667 missense variant G/A;C snv 0.700 1.000 6 2003 2014
dbSNP: rs727504443
rs727504443
DSP
5 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014