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: rs7552188
rs7552188
DPYD
1 1.000 0.040 1 97838601 intron variant T/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs7609078
rs7609078
AFF3
1 1.000 0.040 2 99873901 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs7613875
rs7613875 		2 1.000 0.040 3 49934081 upstream gene variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7763910
rs7763910
BTN2A1 ; LOC285819
1 1.000 0.040 6 26472427 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs809955
rs809955
MAML3
2 1.000 0.040 4 139953606 intron variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs9266237
rs9266237
HLA-B
1 1.000 0.040 6 31357744 upstream gene variant G/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs12268840
rs12268840
MGMT
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs13337626
rs13337626
TSC2
1 1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2295778
rs2295778
HIF1AN
1 1.000 0.040 10 100536079 missense variant C/G snv 0.25 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2341926
rs2341926 		2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs4149579
rs4149579
TNFRSF1A
1 1.000 0.040 12 6338191 intron variant C/T snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs4855094
rs4855094
PIK3CA
1 1.000 0.040 3 179160189 intron variant G/A snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs4965272
rs4965272
ADAMTS17
1 1.000 0.040 15 100044534 intron variant T/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2009 2009
dbSNP: rs648802
rs648802
PERP
1 1.000 0.040 6 138092196 missense variant G/C;T snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs7644468
rs7644468
EPHA6
1 1.000 0.040 3 97291143 intron variant T/C snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013