Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691041
TP53
17 7676271 frameshift variant -/A delins 3
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv 4
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs3087468
NTHL1
16 2040233 missense variant C/A snv 3
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs1372047743
MCM4 ; PRKDC
8 47960120 missense variant C/T snv 9.7E-06 3
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 4
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 1
rs773629528
XPC ; LSM3
3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 1
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30