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: 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: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2009
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2009
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2011
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
dbSNP: rs267607002
rs267607002
RBM20
2 1.000 0.040 10 110812303 missense variant C/A;T snv 0.700 1.000 5 2009 2016
dbSNP: rs267607155
rs267607155
TTN
3 0.925 0.040 2 178782980 missense variant A/G;T snv 0.700 1.000 5 1999 2017
dbSNP: rs397516165
rs397516165
MYH7
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 1.000 5 2011 2017
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: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 5 2001 2013
dbSNP: rs727503253
rs727503253
MYH7
2 1.000 0.040 14 23424119 missense variant G/A snv 4.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs727503512
rs727503512
TNNT2
5 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2012 2013
dbSNP: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
1 2 178702186 frameshift variant CTGCCGTGCT/- delins 0.700 1.000 5 2002 2012