Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
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
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
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 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
rs3775291
TLR3
0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs7799039
LOC105375494
0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs2267437
DESI1 ; XRCC6
0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs2075685
TMEM167A ; XRCC4
0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13
rs3813867
LOC107984284 ; CYP2E1
0.732 0.240 10 133526101 intron variant G/A;C snv 13