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: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.810 1.000 2 2003 2016
dbSNP: rs104894729
rs104894729
TNNI3
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.810 1.000 2 2003 2010
dbSNP: rs104894730
rs104894730
TNNI3
1 1.000 0.040 19 55154047 missense variant T/C snv 0.810 1.000 2 2003 2005
dbSNP: rs121917760
rs121917760
TNNI3
2 0.925 0.040 19 55154148 missense variant A/G;T snv 0.810 1.000 2 2003 2016
dbSNP: rs1114167341
rs1114167341
CRYAB
4 0.882 0.040 11 111908966 missense variant T/C snv 0.710 1.000 1 2017 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 5 2003 2012
dbSNP: rs121917761
rs121917761
TNNI3
1 1.000 0.040 19 55154068 missense variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs104894728
rs104894728
TNNI3
2 0.925 0.040 19 55151898 missense variant T/C snv 0.700 0
dbSNP: rs1114167340
rs1114167340
TNNI3
1 1.000 0.040 19 55154200 missense variant C/A snv 0.700 0
dbSNP: rs397516349
rs397516349
TNNI3
6 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs727503504
rs727503504
TNNI3
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0
dbSNP: rs1114167361
rs1114167361
FLNC
6 0.827 0.160 7 128845022 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185
FLNC
3 0.882 0.040 7 128845012 missense variant GC/CT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1204336259
rs1204336259
DNAH8
2 0.925 0.040 6 38723373 missense variant A/G snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs199476408
rs199476408
MYPN
4 0.851 0.040 10 68165803 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs34677717
rs34677717
PINK1
2 0.925 0.040 1 20638080 missense variant C/T snv 1.4E-04 2.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs574304021
rs574304021
PRRT2 ; LOC112268170
2 0.925 0.040 16 29813487 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs61726467
rs61726467
DES
3 0.882 0.160 2 219421553 stop gained G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2017 2017
dbSNP: rs727503503
rs727503503
TNNI3
5 0.827 0.120 19 55154070 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs879255639
rs879255639
FLNC
3 0.882 0.040 7 128848926 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs879255640
rs879255640
FLNC ; FLNC-AS1
3 0.882 0.040 7 128853831 missense variant A/T snv 0.010 1.000 1 2016 2016