Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs3766871
RYR2
0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 9
rs3825214
TBX5
0.851 0.080 12 114357638 intron variant G/A snv 0.77 8
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 6
rs374528680
CACNA1C-AS1 ; CACNA1C
0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 5
rs104894585
KCNJ2
0.851 0.120 17 70175263 missense variant C/G;T snv 5
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs199473039
KCNH2
0.851 0.120 7 150951512 missense variant G/A;C;T snv 9.5E-05 4
rs199473244
SCN5A
0.851 0.120 3 38557251 missense variant C/A snv 4
rs199473556
SCN5A
0.851 0.120 3 38630342 missense variant G/A snv 4
rs12143842 0.925 0.160 1 162064100 intergenic variant C/T snv 0.22 3
rs755373114
ANK2
0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05 3
rs121912512
KCNH2
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 3
rs199472954
KCNH2
0.882 0.120 7 150951514 missense variant A/G;T snv 3
rs727504432
PKP2
0.882 0.120 12 32792712 frameshift variant T/- delins 3
rs200034939
SCN5A
0.882 0.080 3 38557248 missense variant C/A snv 3.2E-05 3
rs754428169
TJP1
0.925 0.120 15 29761670 missense variant G/A snv 8.0E-06 2.1E-05 3
rs1407369744
ACTN2
1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 2
rs397517025
PKP2
0.925 0.120 12 32878984 frameshift variant TGTA/- del 2
rs730880179
PKP2
0.925 0.120 12 32896556 missense variant T/A snv 6.0E-05 1.5E-04 2
rs149868494
SCN4B
0.925 0.080 11 118152652 missense variant C/T snv 4.1E-04 8.4E-05 2
rs4784379 1.000 0.080 16 54420064 intergenic variant A/G;T snv 0.76 1
rs200745877
DSP
1.000 0.080 6 7580307 missense variant A/G snv 6.8E-05 6.3E-05 1
rs1460922
FGF12
1.000 0.080 3 192143732 3 prime UTR variant A/G;T snv 1
rs17852067
FGF12
1.000 0.080 3 192144109 missense variant G/T snv 1