Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs917997 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 20
rs10983755 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 7
rs1917799 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 4
rs9981660 0.882 0.080 21 42317828 upstream gene variant G/A snv 0.11 3
rs10505799 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 2
rs6878265 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 2
rs7747696 1.000 0.040 6 42093217 non coding transcript exon variant A/G snv 0.54 1
rs7749023 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 1
rs121434254
AIRE
0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 6
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 13
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs1002765
CHMP2B ; MIR4795
0.851 0.080 3 87227912 intron variant G/A;C snv 4
rs1042194
CYP2C18
1.000 0.040 10 94735727 3 prime UTR variant G/C;T snv 2
rs830083
DDB2
0.807 0.120 11 47232500 intron variant G/A;C;T snv 6
rs2029298
DDB2
0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62 3
rs326222
DDB2
0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 3
rs3781619
DDB2
0.882 0.080 11 47233766 intron variant G/A snv 0.26 3
rs6498486
ERCC4
0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 8
rs254942
ERCC4
0.882 0.080 16 13932150 splice region variant G/A;C;T snv 0.97; 4.0E-06; 4.0E-06 3
rs2094258
ERCC5 ; BIVM-ERCC5
0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs158572
ERCC8 ; NDUFAF2
0.851 0.120 5 60943616 intron variant G/A snv 0.63 4
rs3805246
GAB1
0.882 0.120 4 143382955 intron variant G/A snv 0.31 3
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1800871
IL19 ; IL10
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs764097618
IL4R
1.000 0.040 16 27360794 splice donor variant G/A snv 4.0E-06 1