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: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.020 1.000 2 2004 2016
dbSNP: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs199476317
rs199476317
TPM1
6 0.827 0.080 15 63062263 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs267598596
rs267598596
KCNQ4
5 0.827 0.120 1 40818164 missense variant G/A snv 0.010 1.000 1 2018 2018
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: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.010 1.000 1 2010 2010
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: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2007 2007
dbSNP: rs111344408
rs111344408
TNNT2
1 1.000 0.040 1 201363407 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs1131691655
rs1131691655
TTN ; TTN-AS1
1 1.000 0.040 2 178609769 stop gained G/C snv 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: rs1553692290
rs1553692290
TTN ; TTN-AS1
1 1.000 0.040 2 178609842 stop gained C/T snv 0.700 0
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 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: rs397516165
rs397516165
MYH7
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 0
dbSNP: rs57730570
rs57730570
LMNA
1 1.000 0.040 1 156137118 stop gained G/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: rs727504237
rs727504237
MYH7
3 0.882 0.080 14 23428529 missense variant G/T snv 0.700 0
dbSNP: rs727504488
rs727504488
TNNT2
1 1.000 0.040 1 201361305 missense variant C/T snv 0.700 0
dbSNP: rs727504801
rs727504801
SCN5A
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 0
dbSNP: rs727504856
rs727504856
TTN ; TTN-AS1
2 1.000 0.040 2 178559330 frameshift variant CTTT/- del 0.700 0
dbSNP: rs730880603
rs730880603
MYBPC3
2 0.925 0.080 11 47332115 missense variant G/T snv 0.700 0
dbSNP: rs794728588
rs794728588
LMNA
2 1.000 0.040 1 156115262 missense variant A/T 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