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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 1997 1997
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 1997 1997
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 1.000 10 1999 2014
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs371898076
rs371898076
MYH7
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.710 1.000 17 1999 2016
dbSNP: rs397516127
rs397516127
MYH7
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 14 1999 2019
dbSNP: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 1.000 8 1992 2017
dbSNP: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 1.000 8 1990 2013
dbSNP: rs267606908
rs267606908
MYH7
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 7 2002 2014
dbSNP: rs397516264
rs397516264
MYH7
9 0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 0.700 1.000 7 2009 2017
dbSNP: rs3218713
rs3218713
MYH7
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.710 1.000 6 1991 2015
dbSNP: rs397516171
rs397516171
MYH7
9 0.763 0.160 14 23424041 missense variant C/G;T snv 0.700 1.000 4 2008 2017
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.740 1.000 14 1994 2015
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.730 1.000 17 1997 2017
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 17 1997 2017
dbSNP: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 11 1997 2017
dbSNP: rs587782958
rs587782958
MYBPC3
10 0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 0.700 1.000 4 2009 2013
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397516349
rs397516349
TNNI3
6 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 1.000 8 1997 2014
dbSNP: rs267606910
rs267606910
MYH7
6 0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06 0.700 1.000 4 2008 2011
dbSNP: rs727503504
rs727503504
TNNI3
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 1.000 4 2009 2015
dbSNP: rs104894502
rs104894502
TPM1
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.030 1.000 3 1994 2012
dbSNP: rs121964858
rs121964858
TNNT2
6 0.807 0.120 1 201365244 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.700 0