Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs214782
TGM3 ; LOC105372503
0.851 0.040 20 2301324 intron variant G/A snv 0.73 4
rs214803
TGM3
0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 4
rs786203714
PALB2
0.925 0.200 16 23635095 stop gained A/T snv 4
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 10
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 3
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 10
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 16
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs965337385
PPP1R13L
1.000 0.040 19 45395856 missense variant T/C snv 2