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: 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 2017 2017
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs17268122
rs17268122
ABCC4
2 1.000 0.080 13 95192240 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2227935
rs2227935
BLM
2 0.925 0.080 15 90782869 missense variant C/A;G;T snv 4.0E-06; 5.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs373572
rs373572
RAD18
6 0.882 0.120 3 8913705 missense variant C/T snv 0.68 0.70 0.010 1.000 1 2012 2012
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2017 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2017 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2017 2018
dbSNP: rs6854845
rs6854845 		6 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs202195689
rs202195689
SORCS2 ; MIR4274
1 1.000 0.080 4 7460097 mature miRNA variant -/C;CACCC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2013 2013
dbSNP: rs2073438
rs2073438
ALOX12 ; ALOX12-AS1
2 0.925 0.160 17 6996757 intron variant G/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs10889675
rs10889675
IL23R
2 1.000 0.080 1 67256533 intron variant C/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs7542081
rs7542081
IL23R
2 1.000 0.080 1 67237570 intron variant C/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs4796535
rs4796535
C17orf100 ; MIR4520-1 ; ALOX15P1
1 1.000 0.080 17 6656544 intron variant G/A snv 3.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs74790047
rs74790047
CHD4
7 0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2005 2005
dbSNP: rs750713244
rs750713244
EGFR
4 0.925 0.200 7 55157753 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2018 2018