Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2236947
RASSF1
0.882 0.040 3 50334001 intron variant C/A snv 0.39 3
rs235764
BMP2
0.882 0.040 20 6773599 intron variant G/A snv 0.31 3
rs3787547
BCAS1
0.882 0.040 20 54067899 intron variant G/A snv 0.36 3
rs454006
PRKCG
0.882 0.040 19 53886867 intron variant T/C snv 0.36 3
rs7591996 0.882 0.040 2 6321289 intron variant A/C snv 0.57 3
rs9866361
PIK3CA
0.882 0.040 3 179190061 intron variant G/A snv 0.24 3
rs998074
IGF2R
0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 3
rs12146774
LOC105370025
1.000 0.040 12 119235698 intron variant C/T snv 0.15 1
rs2086452
ADAMTS17
1.000 0.040 15 100188458 intron variant G/A;C snv 1
rs10208273 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 3
rs231755 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 3
rs8103992 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 3
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 6
rs886041906
CTLA4
0.882 0.200 2 203868002 stop gained G/A snv 6
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115