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: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.810 1.000 4 2001 2009
dbSNP: rs121908990
rs121908990
PRKAG2
5 0.827 0.120 7 151560611 missense variant G/A;C snv 0.700 1.000 3 2001 2004
dbSNP: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
4 0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06 0.700 0
dbSNP: rs1131692281
rs1131692281
PRKAG2
1 1.000 0.080 7 151675557 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs121909283
rs121909283
NODAL
4 0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 0.700 0
dbSNP: rs1289914935
rs1289914935
TNNT2
1 1.000 0.080 1 201373252 start lost C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs143978652
rs143978652
MYH6
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553624186
rs1553624186
TTN ; TTN-AS1
1 1.000 0.080 2 178580475 synonymous variant G/A snv 0.700 0
dbSNP: rs1554284604
rs1554284604
TBX20
3 0.882 0.120 7 35204478 frameshift variant G/- delins 0.700 0
dbSNP: rs1555100687
rs1555100687
ABCC9
1 1.000 0.080 12 21882764 splice donor variant A/G snv 0.700 0
dbSNP: rs1555418832
rs1555418832
ACTC1 ; LOC101928174
1 1.000 0.080 15 34792499 frameshift variant -/G ins 0.700 0
dbSNP: rs199472712
rs199472712
KCNQ1
3 0.882 0.120 11 2572053 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs199472776
rs199472776
KCNQ1
3 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.700 0
dbSNP: rs199473119
rs199473119
SCN5A
7 0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06 0.700 0
dbSNP: rs267606910
rs267606910
MYH7
6 0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06 0.700 0
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 0
dbSNP: rs869312065
rs869312065
TTN ; TTN-AS1
2 1.000 0.080 2 178548943 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs121908991
rs121908991
PRKAG2
6 0.807 0.120 7 151560610 missense variant C/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs267606977
rs267606977
PRKAG2
4 0.851 0.120 7 151560613 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs370544157
rs370544157
PRKAA1
3 0.882 0.160 5 40764612 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs760353963
rs760353963
MYH6
1 1.000 0.080 14 23383233 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs79474211
rs79474211
PRKAG2
1 1.000 0.080 7 151781320 missense variant C/T snv 7.4E-03 2.2E-03 0.010 1.000 1 2014 2014