Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 12
rs112295309
SCRIB ; MIR937
1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04 3
rs1126616
SPP1
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 8
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 4
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs113561019
OGG1
1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06 2
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 12
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs11646171
CDH8
16 61824185 intron variant G/A snv 0.13 1
rs11651270
NLRP1
0.882 0.240 17 5521757 missense variant T/C snv 0.45 0.47 4
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs11669203
MAP2K7 ; TGFBR3L
0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 4
rs11671784
MIR24-2 ; LOC284454 ; MIR23A ; MIR27A
0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 9
rs11777210
KBTBD11
1.000 0.080 8 1979843 intron variant C/G;T snv 2
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42