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 0.010 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: rs1131691655
rs1131691655
TTN ; TTN-AS1
1 1.000 0.040 2 178609769 stop gained G/C 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: rs1417036453
rs1417036453
SCN5A
2 0.925 0.080 3 38603999 stop gained G/A snv 4.0E-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: rs371678190
rs371678190
TTN ; TTN-AS1
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs57730570
rs57730570
LMNA
1 1.000 0.040 1 156137118 stop gained G/A;T snv 0.700 0
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
4 0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 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: rs751261054
rs751261054
BAG3
1 1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06 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: 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: 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: 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: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
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: 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: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs368779151
rs368779151
TTN ; TTN-AS1
1 1.000 0.040 2 178531566 missense variant T/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018