Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2647045 6 32700323 TF binding site variant G/A snv 0.27 1
rs10190751
CFLAR-AS1 ; CFLAR
0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs2621416 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 4
rs6773854
LOC105374265
1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 2
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs751837
CDC42BPB
0.882 0.120 14 103018488 intron variant T/C snv 0.23 4
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2071286
NOTCH4
0.752 0.280 6 32212119 intron variant C/T snv 0.17 12
rs948562
ZFP91-CNTF ; ZFP91
11 58580292 intron variant A/G snv 0.15 1
rs3135932
IL10RA
0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 23
rs3099844
MICB-DT
0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 13
rs11466782
ADAM19
0.925 0.120 5 157494947 intron variant A/G snv 0.10 3
rs4530903 6 32614112 intergenic variant C/T snv 0.10 1
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 11
rs2274084
GJB2
0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 6
rs61756766
TNFRSF13C
0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 9
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs74790047
CHD4
0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 7
rs867329357
ERCC5 ; BIVM-ERCC5
0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 3
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 8
rs138228187
TIRAP
0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 3
rs1257715362
MAPK10 ; ARHGAP24
0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 3
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73