Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13
rs995030
KITLG
0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 9
rs4635969 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 7
rs755383
DMRT1
0.807 0.120 9 863635 intron variant C/T snv 0.54 7
rs2900333
ATF7IP
0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 6
rs4474514
KITLG
0.827 0.240 12 88560182 intron variant G/A snv 0.65 6
rs1508595 0.851 0.240 12 88592239 intron variant G/A;T snv 5
rs4624820 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 5
rs210138
GGNBP1 ; BAK1
0.851 0.240 6 33574761 intron variant A/G snv 0.19 5
rs76308115
PDE11A
0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 5
rs7040024
DMRT1
0.925 0.120 9 845516 intron variant A/C;G snv 4
rs3782181
KITLG
0.882 0.120 12 88559784 intron variant C/A snv 0.65 4
rs4699052 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 3
rs2072499
SLC25A44
1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 3
rs10510452 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 2
rs7532231 1.000 0.120 1 104193445 intron variant A/G;T snv 0.39 2
rs8046148 1.000 0.120 16 50109033 intron variant A/G;T snv 2
rs2720460
CENPE
1.000 0.120 4 103133529 intron variant A/G snv 0.35 2
rs17021463
HPGDS
1.000 0.120 4 94303661 intron variant T/G snv 0.57 2
rs12699477
MAD1L1
1.000 0.120 7 1929317 intron variant T/C snv 0.28 2
rs2839186
MCM3AP
1.000 0.120 21 46270154 intron variant C/T snv 0.42 2
rs6671895
MIR3659 ; MIR3659HG
1.000 0.120 1 38089354 intron variant C/A;T snv 4.9E-02 2