Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 46
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs352140
TLR9
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 42
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs13107325
SLC39A8
0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 34
rs1800624
PBX2 ; AGER
0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs4246215
FADS2 ; FEN1
0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs1800947
CRP
0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 28