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
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
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv 7
rs11789015
BARX1
0.882 0.080 9 93953746 intron variant A/C;G snv 6
rs2687201 0.925 0.080 3 70879779 intergenic variant A/C;G snv 6
rs3784262
ALDH1A2
0.882 0.160 15 57960908 intron variant T/A;C snv 6
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 5
rs766958673
CBS
0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 4
rs1059536
HLA-A
1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17 3
rs11901649
APOB
0.882 0.080 2 21027351 intron variant G/A;C;T snv 3
rs7255
GDF7
0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 3
rs10108511
LINC00208
0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 2
rs1247942 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 2
rs62423175 0.925 0.080 6 61485463 intergenic variant G/A snv 2
rs7852462
TMOD1
0.925 0.080 9 97548219 intron variant C/A;T snv 2
rs9823696 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 2
rs17625898
FLT1
1.000 0.080 13 28358693 intron variant T/A;G snv 1