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
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1204382931
CYP1B1 ; CYP1B1-AS1
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 10
rs3917412
C1orf112 ; SELE
1.000 0.040 1 169731361 intron variant T/A;C;G snv 4
rs2830581
ADAMTS5
1.000 0.080 21 26921481 3 prime UTR variant G/A;C snv 3
rs1305315912
VEGFA
1.000 0.080 6 43770736 synonymous variant C/T snv 2
rs1741981
HDAC1
1.000 0.080 1 32290838 upstream gene variant T/A;C snv 2
rs9926344
WWOX
1.000 0.080 16 78986883 intron variant G/A;C;T snv 2
rs778264641
SND1
7 127686719 missense variant G/A snv 1
rs984502020
NR1I2
3 119807429 missense variant G/C snv 1
rs746830376
EPHB2
0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 4
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 4
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 40
rs3761549
FOXP3
0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 18
rs553717
GPC5
13 91693325 missense variant C/T snv 0.14 0.14 1
rs28599926
MIR1268A ; LOC101928039
1.000 0.080 15 22225320 mature miRNA variant C/T snv 4.8E-02 0.14 2
rs670
APOA1 ; APOA1-AS
0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 13
rs2302254
NME1-NME2 ; NME1
0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 15