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: rs1395746092
rs1395746092
XRCC1 ; PINLYP
1 19 43575449 missense variant T/C snv 7.0E-06 0.010 1.000 1 2004 2004
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: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2015 2015
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: rs774690269
rs774690269
XPC ; LSM3
1 3 14178562 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs749251734
rs749251734
XPC ; LOC107986063
1 3 14147981 frameshift variant GACGATGTATCCA/- delins 0.010 1.000 1 2004 2004
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.020 1.000 2 2004 2012
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: rs770726832
rs770726832
XPC
1 3 14170483 missense variant T/G snv 5.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
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: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
TP53
3 17 7676271 frameshift variant -/A delins 0.010 1.000 1 2017 2017
dbSNP: rs61748181
rs61748181
TERT
10 0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 0.010 1.000 1 2014 2014
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: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
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
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: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs3087468
rs3087468
NTHL1
3 16 2040233 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2018 2018