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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs156697
GSTO2
0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs4810485
CD40
0.732 0.480 20 46119308 intron variant T/A;G snv 16
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs11191439
AS3MT ; BORCS7-ASMT
0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 6
rs6504649
XYLT2
0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 4
rs1650697
MSH3 ; DHFR
0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 3
rs771656368
KRIT1
0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 3
rs9266150
MIR6891 ; HLA-B
0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 3
rs769255883
XPA
1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 2
rs897453
PEMT
1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 2
rs3790064
PNP
14 20472910 non coding transcript exon variant A/G;T snv 1
rs7196495
CDH1
16 68739957 intron variant C/G;T snv 1
rs9989407 16 68730609 intergenic variant C/A;G;T snv 1