Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs3087468
NTHL1
16 2040233 missense variant C/A snv 3
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs749251734
XPC ; LOC107986063
3 14147981 frameshift variant GACGATGTATCCA/- delins 1
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs770726832
XPC
3 14170483 missense variant T/G snv 5.2E-05 1
rs773629528
XPC ; LSM3
3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 1
rs773632957
ERCC2
19 45368650 missense variant T/G snv 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs983889
FBXL7
5 15555377 intron variant G/T snv 0.55 1