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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2009 2017
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1050274678
rs1050274678
SLC19A1
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10824095
rs10824095
ADK
2 0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs11141915
rs11141915
DAPK1
3 0.882 0.160 9 87620879 intron variant A/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
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 2018 2018
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2020 2020
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11706052
rs11706052
IMPDH2
3 0.882 0.080 3 49026677 intron variant A/G snv 8.3E-02 7.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs11719165
rs11719165 		2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs12046844
rs12046844 		2 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 0.010 1.000 1 2012 2012
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 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1260186456
rs1260186456
ABCC1
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs12720066
rs12720066
ABCB1
2 0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs12934241
rs12934241
MMP2
2 0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1326123837
rs1326123837
SLC37A4 ; TRAPPC4
2 0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1422359334
rs1422359334
GSTK1 ; LOC105375545
2 0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1424665740
rs1424665740
SLC10A2
2 0.925 0.040 13 103066068 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018