Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12500426
PDLIM5
0.851 0.240 4 94593458 intron variant A/C snv 0.54 5
rs1247384316
PROS1
0.925 0.080 3 93924252 missense variant G/A snv 7.0E-06 2
rs9658655
CHGA
0.925 0.080 14 92931686 missense variant G/C snv 0.13 0.12 2
rs8037137
RCCD1
0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 8
rs16944888 0.925 0.080 15 90817292 upstream gene variant C/G snv 7.7E-02 2
rs16944884
BLM
0.925 0.080 15 90816410 upstream gene variant T/A snv 8.3E-02 2
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs561545349
BLM
0.925 0.080 15 90760767 missense variant C/T snv 4.0E-06 2
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs730881857
NBN
0.882 0.120 8 89943320 stop gained G/C snv 4.0E-06 1.4E-05 4
rs5799921
LOC107984543
1.000 0.080 12 89766754 intron variant A/-;AA delins 1
rs4842687
LOC107984543
1.000 0.080 12 89762600 intron variant G/A snv 0.67 1
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 32
rs1529916
USP7
0.851 0.120 16 8897333 intron variant G/A snv 0.26 4
rs1935581
RNLS
1.000 0.080 10 88435392 intron variant C/A;T snv 1
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs1372834938
KIDINS220
0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 12
rs1197734477
PTEN
0.925 0.080 10 87961012 missense variant A/G snv 4
rs56391074
PKN2-AS1
1.000 0.080 1 87745033 intron variant T/-;TT delins 1
rs142600685
ABCB1
0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04 4
rs1442295
LOC105370956
0.925 0.080 15 87419456 intron variant T/C snv 0.27 2
rs35148638
RASA1 ; CCNH
1.000 0.080 5 87315172 intron variant A/C snv 0.21 1
rs7629490 0.925 0.080 3 87192347 intergenic variant C/T snv 0.32 2
rs342442 1.000 0.080 4 87150076 regulatory region variant C/T snv 0.27 1