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: rs267607495
rs267607495
DES
2 2 219418497 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs397516356
rs397516356
TNNI3
1 19 55151917 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs397516370
rs397516370
TPM1
1 15 63057085 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs397516973
rs397516973
DSP
1 6 7565448 stop gained C/A;T snv 1.2E-05 0.700 1.000 1 2006 2006
dbSNP: rs397517244
rs397517244
VCL
1 10 74072792 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs397517587
rs397517587
TTN ; TTN-AS1
1 2 178618768 stop gained G/A;T snv 4.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs397517664
rs397517664
TTN ; TTN-AS1
1 2 178581650 stop gained G/T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs397517749
rs397517749
TTN ; TTN-AS1
1 2 178552313 frameshift variant T/- delins 0.700 1.000 1 2006 2006
dbSNP: rs397517750
rs397517750
TTN ; TTN-AS1
1 2 178552121 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs397517904
rs397517904
LMNA
1 1 156130774 splice donor variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs397517909
rs397517909
LMNA
1 1 156134949 stop gained G/T snv 0.700 1.000 1 2000 2000
dbSNP: rs45516091
rs45516091
MYH7
2 14 23431608 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs551837344
rs551837344
SYNM
1 15 99129975 missense variant T/C snv 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs59564495
rs59564495
LMNA
1 1 156135231 frameshift variant G/- delins 0.700 1.000 1 2007 2007
dbSNP: rs727503546
rs727503546
TTN ; TTN-AS1
1 2 178547178 frameshift variant TCTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs727503552
rs727503552
TTN ; TTN-AS1
1 2 178557838 frameshift variant G/- del 0.700 1.000 1 2012 2012
dbSNP: rs727504381
rs727504381
VCL
1 10 74097222 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs727504660
rs727504660
TTN ; TTN-AS1
1 2 178564253 frameshift variant AA/- delins 0.700 1.000 1 2012 2012
dbSNP: rs727504843
rs727504843
TTN ; TTN-AS1
1 2 178718815 stop gained C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs727505115
rs727505115
DSP
1 6 7572069 splice donor variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs730880343
rs730880343
TTN ; TTN-AS1
1 2 178568710 frameshift variant -/G delins 0.700 1.000 1 2014 2014
dbSNP: rs730881097
rs730881097
TNNT2
1 1 201363352 missense variant C/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2005 2005
dbSNP: rs749838192
rs749838192
SCO2 ; NCAPH2
1 22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 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: rs771753477
rs771753477
OPA3
1 19 45529234 missense variant A/C;G snv 4.1E-06; 4.1E-06 0.010 1.000 1 2008 2008