Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
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
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 5
rs1059536
HLA-A
1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs9257809
OR12D3 ; OR5V1
0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 10
rs4800353 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 5
rs7632500
LOC107986152
0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 5
rs2341926 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 2
rs2188554
ASZ1 ; CFTR
1.000 0.080 7 117400063 intron variant A/G snv 0.20 1
rs4740363
ABL1
1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02 1
rs7324547
FLT1
1.000 0.080 13 28355470 intron variant A/G snv 0.64 1
rs9823696 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 2
rs4676893 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 3
rs76014404
KHDRBS2
1.000 0.080 6 61681634 intron variant AAACA/-;AAACAAAACA delins 0.20 1
rs768170742
HLA-A
1.000 0.080 6 29943448 frameshift variant ATGA/- del 1.9E-05 3
rs2236302
MMP14
1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 1
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs7852462
TMOD1
0.925 0.080 9 97548219 intron variant C/A;T snv 2
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79