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
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs2395185
HLA-DRB9
0.724 0.360 6 32465390 intron variant G/T snv 0.29 17
rs3099844
MICB-DT
0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 13
rs2071286
NOTCH4
0.752 0.280 6 32212119 intron variant C/T snv 0.17 12
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 11
rs9268853
HLA-DRB9
0.790 0.440 6 32461866 intron variant T/C snv 0.29 10
rs2621416 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 4
rs707824
LOC101928354
0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 3
rs2647045 6 32700323 TF binding site variant G/A snv 0.27 1
rs4530903 6 32614112 intergenic variant C/T snv 0.10 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 8
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 7
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv 3
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs273429
LOC105375763
8 131467654 intergenic variant C/T snv 0.43 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187