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 0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs10851465
rs10851465
DUT
1 1.000 0.040 15 48337687 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs11637235
rs11637235
DUT
2 1.000 0.040 15 48340956 intron variant C/T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1280759302
rs1280759302
TAP2
2 1.000 0.040 6 32829419 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs2029167
rs2029167
LOC105369777
3 0.925 0.080 12 54196349 intergenic variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs2305809
rs2305809
DMRTC2
3 1.000 0.040 19 41850561 synonymous variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs28381106
rs28381106
DUT
1 1.000 0.040 15 48332799 intron variant T/G snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs28381126
rs28381126
DUT
1 1.000 0.040 15 48337916 intron variant G/T snv 3.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs3087404
rs3087404
SMUG1 ; LOC105369777
3 0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3784619
rs3784619
DUT
1 1.000 0.040 15 48333741 intron variant G/A snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs7082598
rs7082598 		3 1.000 0.040 10 119192212 regulatory region variant C/T snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs750898115
rs750898115
USO1
4 0.882 0.080 4 75787191 missense variant A/G snv 1.0E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2009 2009