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: 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: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
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: 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: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10852151
rs10852151 		1 1.000 0.040 15 91540065 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9936833
rs9936833 		6 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs72771256
rs72771256 		1 1.000 0.040 5 83588743 intergenic variant G/A;T snv 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
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: 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: rs4362541
rs4362541
LINC02831 ; LOC105374786
1 1.000 0.040 2 67615734 intron variant A/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs1937450
rs1937450
PDE4B
1 1.000 0.040 1 66013157 intron variant T/G snv 0.45 0.700 1.000 1 2019 2019
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: rs12792379
rs12792379 		1 1.000 0.040 11 6247316 downstream gene variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs11171710
rs11171710
RAB5B
1 1.000 0.040 12 55974294 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs34796998
rs34796998
LOC105371829
1 1.000 0.040 17 52230513 intergenic variant C/G snv 0.34 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: 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: 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: 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: rs74652506
rs74652506
SNRK ; ANO10
1 1.000 0.040 3 43402386 intron variant C/T snv 9.7E-02 0.700 1.000 1 2019 2019