Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 24
rs2069705
IFNG-AS1 ; IFNG
0.695 0.440 12 68161231 intron variant G/A;C snv 19
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 10
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
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
rs199473605
SCN5A
0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 7
rs61752115
PEX13
0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 7
rs104895271
TNFRSF1A
0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 6
rs147080557
NLRP12
0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 6
rs1567608853
CYBA
0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 6
rs2072136
OAS3
0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 6
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
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
rs1555889984
RUNX1
0.925 0.120 21 34834536 stop gained C/A snv 5