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: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
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: 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: rs2305482
rs2305482
PSMD3
4 0.851 0.200 17 39984674 intron variant A/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs693955
rs693955
SLC29A1
2 0.925 0.040 6 44224183 intron variant A/C snv 0.85 0.010 1.000 1 2015 2015
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: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 2018
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: 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: 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: rs1482105290
rs1482105290
DLEU2 ; TRIM13
2 0.925 0.040 13 50012772 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17376848
rs17376848
DPYD
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17501331
rs17501331
ABCC1
2 0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs1885301
rs1885301
ABCC2
2 0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs2032592
rs2032592
DDX3Y
5 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs2307486
rs2307486
APEX1 ; OSGEP
7 0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs3758581
rs3758581
CYP2C19
3 0.925 0.040 10 94842866 missense variant A/G snv 0.95 0.010 1.000 1 2017 2017