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: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.010 1.000 1 1997 1997
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: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.070 1.000 7 2000 2011
dbSNP: rs104894502
rs104894502
TPM1
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.020 1.000 2 2000 2011
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2001 2001
dbSNP: rs121908989
rs121908989
PRKAG2
4 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs121913625
rs121913625
MYH7
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121964857
rs121964857
TNNT2
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.010 1.000 1 2003 2003
dbSNP: rs730880742
rs730880742
MYH7
3 0.882 0.080 14 23424984 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs267607123
rs267607123
TNNC1
4 0.882 0.080 3 52452222 missense variant A/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2019
dbSNP: rs121908991
rs121908991
PRKAG2
6 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
dbSNP: rs104894729
rs104894729
TNNI3
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.010 1.000 1 2005 2005
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: 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: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs28933405
rs28933405
TTN
3 0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs121913630
rs121913630
MYH7
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.030 1.000 3 2006 2020
dbSNP: rs267606979
rs267606979
PRKAG2
3 0.882 0.080 7 151560560 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs121913627
rs121913627
MYH7
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007