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: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs2227999
rs2227999
XPC
1 3 14158408 missense variant C/T snv 4.2E-02 4.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2012 2012
dbSNP: rs939481814
rs939481814
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 2 233767063 synonymous variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121908874
rs121908874
TSHR ; LOC101928462
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 1999 1999
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs7873784
rs7873784
TLR4
11 0.752 0.440 9 117716658 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1201299
rs1201299
TBL1XR1
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs4952490
rs4952490
SLC8A1 ; SLC8A1-AS1
2 1.000 0.080 2 40145564 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs2838958
rs2838958
SLC19A1
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4648310
rs4648310
PTGS2
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs3842787
rs3842787
PTGS1
11 0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs5789
rs5789
PTGS1
2 1.000 0.080 9 122381694 missense variant C/A snv 1.8E-02 1.8E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.030 1.000 3 2008 2019