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 0.030 1.000 3 2011 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2009 2011
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2622590
rs2622590
XKR4
4 0.925 0.080 8 55445714 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs3024997
rs3024997
VEGFA
3 0.882 0.120 6 43777370 non coding transcript exon variant G/A snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs3025040
rs3025040
VEGFA
3 0.882 0.120 6 43785314 3 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2516838
rs2516838
USF1
1 1.000 0.080 1 161044580 intron variant C/G snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs3924194
rs3924194
UGT2B7
3 0.882 0.120 4 69105374 intron variant C/G snv 9.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs7441774
rs7441774
UGT2B7
3 0.882 0.120 4 69098836 intron variant G/A snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 2009 2009
dbSNP: rs2288496
rs2288496
TSHR ; LOC101928462
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs28937584
rs28937584
TSHR ; LOC101928462
4 0.925 0.080 14 81143955 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs72753537
rs72753537
TRMO ; LOC112268051
1 1.000 0.080 9 97898464 intergenic variant T/C snv 9.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2009 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2016
dbSNP: rs1453167097
rs1453167097
TP53
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs750893877
rs750893877
TP53
7 0.807 0.320 17 7674258 synonymous variant G/A snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs11466653
rs11466653
TLR10
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2019 2019