Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs4072037
MUC1
0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 22
rs1057941
GBAP1
0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs11119608
KCNH1
0.708 0.280 1 210816167 intron variant T/G snv 0.21 17
rs186507655 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 17
rs2974935
MTX1
0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 17
rs34517439
DNAJB4 ; GIPC2
0.882 0.120 1 77984833 intron variant C/A snv 7.3E-02 7
rs17391694 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 6
rs595961
AGO1
0.807 0.160 1 35902179 intron variant A/G snv 0.30 0.37 6
rs533748068
ARHGEF2 ; MIR6738
0.851 0.080 1 155950962 missense variant C/A;T snv 4.3E-06 7.0E-06 5
rs144594252
DDR2
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 3
rs71658797
AK5
0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02 3
rs1356083197
CNIH3 ; WDR26
1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 2
rs746540053
CD34 ; LOC107985253
1.000 0.040 1 207911034 missense variant C/T snv 2
rs759404153
EPHB2
1.000 0.040 1 22910452 missense variant T/A;G snv 2.8E-05; 4.0E-06 2
rs3134614
MYCL ; MYCL-AS1
1.000 0.040 1 39897382 missense variant G/C snv 0.89 0.91 1
rs35535570
MIGA1
1.000 0.040 1 77794071 intron variant G/A snv 5.2E-02 1
rs3738671
TRIT1
1.000 0.040 1 39850216 missense variant A/T snv 0.11 0.10 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58