Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 16
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs112505971
ANKRD26
10 27068541 intron variant A/C;G snv 13
rs3123543
ATF3
1 212617344 intron variant T/A;C snv 13
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins 13
rs35188965
SLC12A7
5 1104823 intron variant C/G;T snv 12
rs76428106
FLT3
0.851 0.040 13 28029870 intron variant T/C;G snv 10
rs34811474
ANAPC4
1.000 0.040 4 25407216 missense variant G/A;T snv 0.15; 4.1E-06 8
rs8179
CDK6
0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 8
rs6795735
ADAMTS9-AS2
0.882 0.120 3 64719689 intron variant C/A;G;T snv 7
rs11574938
ITGAL
0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 6
rs12459419
CD33
0.925 0.120 19 51225221 missense variant C/G;T snv 0.31 6
rs34208856
HBS1L
6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 6
rs3755967
GC
0.925 0.080 4 71743681 intron variant C/A;T snv 6
rs729761
LOC105375069 ; LOC107986598
0.925 0.120 6 43836834 intron variant T/A;G snv 6
rs7740107
L3MBTL3
1.000 0.080 6 130053316 intron variant T/A;G snv 6
rs1144700
ATXN1
6 16744456 intron variant C/G;T snv 5
rs12600856 17 40007042 intergenic variant T/C;G snv 5
rs139707092
SPC25 ; NOSTRIN
2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 5
rs145013566
PNKD
2 218297998 intron variant -/C ins 5
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 5