Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs2298211
TNFRSF4
1.000 0.040 1 1211863 intron variant A/C snv 8.1E-02 8.2E-02 1
rs17568
TNFRSF4
0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 12
rs10818524
GSN
1.000 0.040 9 121267901 intron variant T/C snv 0.37 1
rs1078305
GSN
1.000 0.040 9 121289122 intron variant A/G snv 0.70 1
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv 9
rs1057520018
STK11
0.807 0.080 19 1223124 missense variant T/C snv 6
rs59912467
STK11
0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 7
rs764496629
RAF1
1.000 0.040 3 12590859 missense variant C/T snv 1
rs2847281
PTPN2
1.000 0.040 18 12821594 intron variant A/G snv 0.32 3
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs987525
CCDC26
0.807 0.160 8 128933908 intron variant C/A snv 0.31 7
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs771590775
TERT
1.000 0.040 5 1294350 missense variant C/A;G snv 1
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3813867
LOC107984284 ; CYP2E1
0.732 0.240 10 133526101 intron variant G/A;C snv 13
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs13301660
SEC16A
1.000 0.040 9 136446350 intron variant C/T snv 0.20 1
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53