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: 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: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
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: 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: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
8 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 0.010 1.000 1 2015 2015
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
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: 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
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: 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: 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: rs2074087
rs2074087
ABCC1
3 0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 0.010 1.000 1 2013 2013
dbSNP: rs2244613
rs2244613
CES1
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2015 2015
dbSNP: rs4240803
rs4240803
SLC7A5 ; LOC107987237
4 0.851 0.240 16 87855597 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6498588
rs6498588
LOC107984869
2 0.925 0.040 16 15938949 intergenic variant A/T snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs3825876
rs3825876
SLC28A1
2 0.925 0.040 15 84892637 intron variant G/A snv 0.34 0.010 1.000 1 2019 2019
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: 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: 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
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