Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11466782
ADAM19
0.925 0.120 5 157494947 intron variant A/G snv 0.10 3
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs2231231
AQP3
0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 5
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs2466571
CD46
0.925 0.120 1 207766701 intron variant G/T snv 0.46 3
rs751837
CDC42BPB
0.882 0.120 14 103018488 intron variant T/C snv 0.23 4
rs10190751
CFLAR-AS1 ; CFLAR
0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs867329357
ERCC5 ; BIVM-ERCC5
0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 3
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 8
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv 3
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs2274084
GJB2
0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 6
rs995922697
GPX1
0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 15
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 11
rs2395185
HLA-DRB9
0.724 0.360 6 32465390 intron variant G/T snv 0.29 17
rs2304240
ICAM3
0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 4
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 23
rs1353428252
IDH2
0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 5