Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43 5
rs4373767 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 4
rs7084402 0.925 0.040 10 58505644 intergenic variant A/G snv 0.51 4
rs8027411
ANKRD34C-AS1
0.882 0.040 15 79168687 intron variant G/T snv 0.52 4
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 4
rs3735520
HGF
0.851 0.040 7 81771623 upstream gene variant G/A;T snv 4
rs6203
HSD3B1
0.851 0.120 1 119514535 synonymous variant C/T snv 0.45 0.35 4
rs5742632
LINC02456 ; IGF1
0.851 0.120 12 102462696 intron variant A/G snv 0.26 4
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv 4
rs17648524
RBFOX1
0.882 0.040 16 7409682 intron variant G/C snv 0.29 4
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs7839488
SNTB1
0.882 0.040 8 120550178 intron variant G/A snv 0.47 4
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21 4
rs10034228 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 3
rs11073058 1.000 0.040 15 34697425 regulatory region variant G/A;T snv 3
rs1656404 0.925 0.040 2 232515231 regulatory region variant G/A snv 0.18 3
rs17175798
ANKRD34C-AS1
0.925 0.040 15 79171618 intron variant C/A;T snv 3
rs12716080
CTNND2
0.882 0.040 5 11166836 intron variant G/T snv 0.39 3
rs6885224
CTNND2
0.882 0.040 5 11169833 intron variant C/A;T snv 3
rs10824518
KCNMA1
0.882 0.040 10 77303784 intron variant T/A;C snv 3
rs9318086
MIPEP
0.882 0.040 13 23858328 intron variant A/G snv 0.55 3
rs577948
MIR100HG
0.882 0.040 11 122159482 intron variant A/G snv 0.33 3
rs644242
PAX6
0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 3
rs662702
PAX6 ; ELP4
0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15 3
rs28933687
RP2
0.882 0.080 X 46853726 missense variant G/A;T snv 3