Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104895271
TNFRSF1A
0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 6
rs104895358
MVK
12 109595148 missense variant G/A snv 1.2E-05 2
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs1055229
LINC01857
1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 2
rs1057518827
NLRP3
1.000 0.040 1 247425248 missense variant A/G snv 3
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs11568658
SNORD13G ; ABCC4
0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 3
rs11575933
ADAMTS13
0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 3
rs118192161
RYR1
0.882 0.120 19 38444211 missense variant C/T snv 5
rs1187636039
EPHA3
0.925 0.120 3 89341043 missense variant C/A snv 5
rs1204135596
NLRP3
1 247425398 missense variant A/G snv 4.0E-06 1
rs121917748
SCN2A
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 4
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 9
rs12477677
LINC01857
1.000 0.080 2 207666398 intron variant T/C snv 0.22 2
rs12939622
DDX52
1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 2
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 10
rs1424748509
TNFRSF1A
12 6330859 missense variant C/T snv 4.0E-06 1
rs147080557
NLRP12
0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 6
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv 8
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv 8
rs1555889984
RUNX1
0.925 0.120 21 34834536 stop gained C/A snv 5
rs1567608853
CYBA
0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 6
rs1732778 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 5