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
rs1372047743
MCM4 ; PRKDC
8 47960120 missense variant C/T snv 9.7E-06 3
rs3087468
NTHL1
16 2040233 missense variant C/A snv 3
rs1383997
MSC-AS1
8 72005483 intron variant T/C snv 0.58 1
rs1395746092
XRCC1 ; PINLYP
19 43575449 missense variant T/C snv 7.0E-06 1
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 1
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs150547487
SLX4
16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 1
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs749251734
XPC ; LOC107986063
3 14147981 frameshift variant GACGATGTATCCA/- delins 1
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
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs983889
FBXL7
5 15555377 intron variant G/T snv 0.55 1
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv 4
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 4
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
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
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 21