Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs1799889
SERPINE1
0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs995030
KITLG
0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 9
rs755383
DMRT1
0.807 0.120 9 863635 intron variant C/T snv 0.54 7
rs1872328
ACYP2
0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 6
rs4474514
KITLG
0.827 0.240 12 88560182 intron variant G/A snv 0.65 6
rs7040024
DMRT1
0.925 0.120 9 845516 intron variant A/C;G snv 4
rs2293275
GTF2A1L ; STON1-GTF2A1L ; LHCGR
0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 4
rs3782181
KITLG
0.882 0.120 12 88559784 intron variant C/A snv 0.65 4
rs730881976
STK11
0.882 0.240 19 1220702 stop gained C/A;G snv 4
rs137853078
STK11
0.925 0.120 19 1220396 missense variant G/A snv 3
rs62283056
WFS1
0.882 0.280 4 6274903 intron variant G/C snv 0.20 3
rs6490478 1.000 0.120 13 30702591 intergenic variant G/T snv 0.62 1
rs7486184 1.000 0.120 12 88453224 regulatory region variant A/G;T snv 1
rs370432633
BCL10
1.000 0.120 1 85267841 missense variant G/A snv 1.6E-05 1
rs3770112
ITGA4
1.000 0.120 2 181512814 intron variant G/A snv 0.23 1