Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 9
rs9594782
TNFSF11
1.000 0.080 13 42577050 intron variant T/C snv 4.0E-02 1
rs75404003
TNFRSF11A
1.000 0.080 18 62361277 intron variant C/- delins 1
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13 19
rs17132261
TMEM232
1.000 0.080 5 110672513 intron variant C/T snv 4.8E-02 2
rs10500279
RYR1
1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 1
rs2071090
RYR1
1.000 0.080 19 38524814 intron variant T/C snv 0.15 1
rs2960321
RYR1
1.000 0.080 19 38557523 intron variant C/A snv 0.18 1
rs148158093
RPL36A-HNRNPH2 ; GLA
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 3
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1349963459
PSEN1
0.925 0.080 14 73170901 missense variant G/T snv 2
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs11053646
OLR1
0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 18
rs5522
NR3C2
0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 19
rs2070951
NR3C2
0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 9
rs5068
NPPA ; NPPA-AS1 ; CLCN6
0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2292462
NMB
1.000 0.080 15 84657523 intron variant G/C;T snv 2
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 2
rs1436109
NCAM1
1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 3
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv 4
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 5
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 4