Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
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
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26