Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38 9
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs181696
PLCH1
0.925 0.080 3 155548315 intron variant T/C snv 0.55 3
rs143752852
MST1R ; LOC102724438
3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 1
rs17429138
LOC107986169
3 189527804 intergenic variant A/G snv 0.26 1
rs4396880
TP63
3 189638432 intron variant G/A snv 0.34 1
rs3114020
ABCG2
0.882 0.200 4 88162514 intron variant T/C snv 0.40 5
rs1397529
GAB1
0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 4
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs2853677
TERT
0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 19
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs4975616 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 12
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs112290073
TERT
0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03 4
rs138895564
TERT
0.882 0.080 5 1271959 intron variant C/T snv 5.1E-03 4