Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563145763
AKAP9
1.000 0.120 7 92099838 stop gained G/A snv 1
rs796052200
AKAP9
1.000 0.120 7 92045186 missense variant T/A snv 4.0E-06 1
rs796052199
AKAP9
1.000 0.120 7 92002212 missense variant T/A snv 1
rs199744595
CALM1
0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05 2
rs1085307479
CALM1
1.000 0.120 14 90404691 missense variant T/C snv 1
rs730882252
CALM1
0.882 0.120 14 90404482 missense variant A/G snv 3
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv 6
rs779760381
SLC2A5
1.000 0.120 1 9039877 missense variant G/A snv 1.2E-05 1
rs104893714
SSUH2 ; CAV3
0.925 0.120 3 8745701 missense variant T/G snv 3
rs28936686
SSUH2 ; CAV3
0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 4
rs72546668
SSUH2 ; CAV3
0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 8
rs116840795
CAV3 ; SSUH2
1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 2
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 7
rs796052171
CAV3 ; SSUH2
1.000 0.120 3 8733913 missense variant A/T snv 1
rs778914298
SSUH2 ; CAV3
1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05 1
rs1060502318
CAV3 ; SSUH2
1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06 1
rs1299120831
SNAP91
1.000 0.120 6 83661523 missense variant T/C snv 1.4E-05 1
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs773204795
TECRL
0.882 0.120 4 64309896 missense variant C/T snv 2.4E-05 2.1E-05 3
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 5
rs398124647
CALM2
0.807 0.120 2 47161851 missense variant T/A;C snv 6
rs11551462
CALM2
0.925 0.120 2 47160802 missense variant A/G snv 2
rs1287693879
DNAH8
1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 2
rs201002736
SCN5A
1.000 0.120 3 38614031 stop gained G/A;T snv 8.3E-05; 8.8E-06 1
rs41276525
SCN5A
1.000 0.120 3 38613799 missense variant G/A snv 6.8E-04 6.6E-04 1