Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs142883642
IDH1
1.000 0.040 2 208248486 missense variant T/C snv 3.6E-05 2.1E-05 2
rs3835
XRCC5
0.882 0.120 2 216201914 intron variant G/A snv 0.21 4
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs377577594
DNMT3A
0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 7
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs121913488
FLT3
0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs193303018
ND2 ; ND1 ; TRNL1
1.000 0.200 MT 3242 non coding transcript exon variant G/A snv 2
rs3746609
ASXL1
20 32434666 missense variant G/A snv 1.9E-02; 4.4E-06 7.4E-03 1
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs1408538785
DNAH8
0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 6
rs762622506
BCOR
0.925 0.080 X 40074459 missense variant C/A;T snv 6.1E-06 3
rs1801320
RAD51 ; RAD51-AS1
0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 15
rs752492487
RAD51
15 40718847 missense variant A/G snv 4.0E-06 7.0E-06 1
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs2267437
DESI1 ; XRCC6
0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs371246226
U2AF1
0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 8
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25