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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157