Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111476047 19 49548304 downstream gene variant -/GGTT delins 0.37 1
rs11772705 7 100701281 upstream gene variant T/C snv 0.26 1
rs1848347 4 54520711 intergenic variant G/A;T snv 1
rs6064559 20 57544460 regulatory region variant C/A;T snv 1
rs62228060 22 45980504 upstream gene variant A/G;T snv 1
rs71358934 19 40818173 intron variant G/A snv 0.22 1
rs1010269
BCAS3
17 61371584 intron variant A/G snv 0.74 1
rs150505258
BICC1
10 58525003 intron variant C/A snv 0.37 1
rs146109634
BTNL2 ; TSBP1-AS1
6 32400784 intron variant A/C;G;T snv 1
rs1181870
CCDC27
1 3768390 intron variant C/A snv 0.23 1
rs554019
DNM3
1 172171408 intron variant C/T snv 0.49 1
rs12610645
DOT1L
19 2165843 intron variant G/A;C;T snv 1
rs372272284
EPAS1
2 46357720 intron variant A/G snv 1.5E-04 1
rs11122272
EXOC8
1 231335026 3 prime UTR variant A/G snv 0.55 1
rs61804164
FCGR2B
1 161653235 intergenic variant G/C snv 1.0E-01 1
rs3996993
GSTA11P
6 52860723 intron variant T/C snv 0.44 1
rs557129696
HBG2 ; HBE1 ; OR51B5
11 5307453 intron variant T/G snv 2.4E-04 1
rs2524081
HLA-B
6 31274306 intron variant G/A;C snv 1
rs11377084
LINC01169
15 66651883 intron variant -/A ins 0.67 1
rs4957325
LOC105374737 ; TTC33
5 40620480 intron variant C/G;T snv 1
rs11719450
LOC107986092
3 58471084 TF binding site variant C/T snv 0.28 1
rs530159671
LUC7L
16 200185 intron variant G/A snv 2.0E-03 1
rs544453779
MIDEAS
14 73751866 intron variant C/T snv 4.3E-03 1
rs66561647
MIR1205 ; PVT1
8 127959615 intron variant C/A;T snv 1
rs17006441
MITF
3 69792729 intron variant C/A snv 0.35 1