Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691041
rs1131691041
TP53
3 17 7676271 frameshift variant -/A delins 0.010 1.000 1 2017 2017
dbSNP: rs1372047743
rs1372047743
MCM4 ; PRKDC
3 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1383997
rs1383997
MSC-AS1
1 8 72005483 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1395746092
rs1395746092
XRCC1 ; PINLYP
1 19 43575449 missense variant T/C snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1431381385
rs1431381385
XPC
1 3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1486253194
rs1486253194
XPC
1 3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs150547487
rs150547487
SLX4
1 16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs2824215
rs2824215 		1 21 17063088 intergenic variant A/C snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs3087468
rs3087468
NTHL1
3 16 2040233 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs749251734
rs749251734
XPC ; LOC107986063
1 3 14147981 frameshift variant GACGATGTATCCA/- delins 0.010 1.000 1 2004 2004
dbSNP: rs770726832
rs770726832
XPC
1 3 14170483 missense variant T/G snv 5.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs773629528
rs773629528
XPC ; LSM3
1 3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs773632957
rs773632957
ERCC2
1 19 45368650 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs774690269
rs774690269
XPC ; LSM3
1 3 14178562 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs983889
rs983889
FBXL7
1 5 15555377 intron variant G/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2010 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2010 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2010 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 1.000 6 2004 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2011 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2012 2012
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2019 2019