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: rs121964858
rs121964858
TNNT2
6 0.807 0.120 1 201365244 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs1289010014
rs1289010014
TNNT2
1 1.000 0.040 1 201359623 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1302598456
rs1302598456
MYH7
1 1.000 0.040 14 23431622 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1316189390
rs1316189390
HCN4 ; LOC105370890
2 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1326977511
rs1326977511
JPH2
1 1.000 0.040 20 44116369 missense variant G/A;C snv 3.6E-05; 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs1337388106
rs1337388106
MYBPC3
2 0.925 0.080 11 47350112 missense variant C/G snv 1.3E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1352376969
rs1352376969
MYBPC3
3 0.882 0.080 11 47341155 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1403543
rs1403543
AGTR2
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs140523053
rs140523053
TRIM63
1 1.000 0.040 1 26067352 missense variant G/A snv 1.4E-03 1.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs140740776
rs140740776
JPH2
1 1.000 0.040 20 44116162 missense variant C/G;T snv 3.9E-05; 9.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs141121678
rs141121678
TNNT2
1 1.000 0.040 1 201359220 missense variant C/A;T snv 4.1E-06; 6.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1419256494
rs1419256494
INSR
3 0.882 0.280 19 7142938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs1425571023
rs1425571023
MYH6
1 1.000 0.040 14 23400759 missense variant G/A snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs143697995
rs143697995
MRPL44
3 0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs1454735927
rs1454735927
TNNI3
1 1.000 0.040 19 55154043 frameshift variant T/- del 0.010 1.000 1 2014 2014
dbSNP: rs1467607281
rs1467607281
OPA1
3 0.882 0.040 3 193645736 missense variant T/C snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs147009070
rs147009070
P2RX5 ; P2RX5-TAX1BP3
1 1.000 0.040 17 3690128 missense variant C/T snv 5.5E-04 4.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs1489940065
rs1489940065
MYH7
2 0.925 0.040 14 23433188 missense variant G/A snv 2.8E-05 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
2 0.925 0.080 6 31271285 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs186964570
rs186964570
MYH7
3 0.882 0.080 14 23433656 missense variant G/A snv 5.3E-04 2.2E-04 0.010 1.000 1 2009 2009