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: rs397516059
rs397516059
MYBPC3
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs730880365
rs730880365
TTN ; TTN-AS1
3 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 0.700 0
dbSNP: rs1263987728
rs1263987728
MYH6
1 1.000 0.040 14 23404296 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs794728588
rs794728588
LMNA
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs727503533
rs727503533
TTN ; TTN-AS1
1 1.000 0.040 2 178531665 frameshift variant C/- del 0.700 0
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
4 0.882 0.160 2 178605642 stop gained C/A snv 0.700 0
dbSNP: rs869178171
rs869178171
TTN ; TTN-AS1
7 0.790 0.200 2 178563475 stop gained C/A snv 0.700 0
dbSNP: rs111344408
rs111344408
TNNT2
1 1.000 0.040 1 201363407 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs61094188
rs61094188
LMNA
2 0.925 0.160 1 156136257 missense variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs751261054
rs751261054
BAG3
1 1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs974510652
rs974510652
TTN ; TTN-AS1
1 1.000 0.040 2 178552194 stop gained C/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397516165
rs397516165
MYH7
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 0
dbSNP: rs397517906
rs397517906
LMNA
3 0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 0.700 1.000 2 2018 2019
dbSNP: rs267607626
rs267607626
LMNA
1 1.000 0.040 1 156134454 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs59026483
rs59026483
LMNA
7 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1553692290
rs1553692290
TTN ; TTN-AS1
1 1.000 0.040 2 178609842 stop gained C/T snv 0.700 0
dbSNP: rs267607560
rs267607560
LMNA
2 0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs727504488
rs727504488
TNNT2
1 1.000 0.040 1 201361305 missense variant C/T snv 0.700 0
dbSNP: rs727504856
rs727504856
TTN ; TTN-AS1
2 1.000 0.040 2 178559330 frameshift variant CTTT/- del 0.700 0
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2007 2007