Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 28
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs498872
PHLDB1
0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 10
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 8
rs10852606
HEATR3
0.882 0.040 16 50094961 intron variant T/A;C snv 4
rs1805389
LIG4
0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 4
rs59060240
EGFR
0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 4
rs648044
ZBTB16 ; LOC101928875
0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 4
rs75061358 0.882 0.040 7 54848587 intergenic variant T/C;G snv 4
rs12021720
DBT
0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 3
rs10494090
SLC25A24
1.000 0.040 1 108150714 intron variant A/C;G;T snv 2
rs11598018
STN1
1.000 0.040 10 103901557 intron variant C/A;T snv 2
rs11706832
LRIG1
1.000 0.040 3 66452557 intron variant A/C;G snv 2
rs12803321
PHLDB1
1.000 0.040 11 118609400 intron variant G/C;T snv 2
rs2236507
RTEL1-TNFRSF6B ; RTEL1
1.000 0.040 20 63691653 intron variant G/C;T snv 2
rs1555876140
SMARCB1
22 23793671 frameshift variant -/C delins 1
rs63750790
MSH2
1.000 0.160 2 47476425 missense variant G/A snv 3.2E-05 7.0E-06 3
rs111696067
GOLGA3
1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 2
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37