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: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.740 1.000 8 2008 2018
dbSNP: rs10090154
rs10090154 		7 0.807 0.160 8 127519892 intergenic variant T/A;C snv 0.070 1.000 7 2008 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2003 2015
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.740 1.000 7 2010 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.070 0.857 7 2004 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.070 0.857 7 2004 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.070 0.714 7 2009 2019
dbSNP: rs1902023
rs1902023
UGT2B15
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.070 0.857 7 2000 2017
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.760 0.857 7 2010 2016
dbSNP: rs7837688
rs7837688 		2 0.925 0.080 8 127527115 intergenic variant T/G snv 0.91 0.710 1.000 7 2007 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.667 6 2007 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.060 0.833 6 2007 2017
dbSNP: rs1456315
rs1456315
PCAT1 ; PRNCR1 ; CASC19
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.720 1.000 6 2010 2014
dbSNP: rs17632542
rs17632542
KLK3
5 0.925 0.080 19 50858501 missense variant T/C snv 5.5E-02 4.9E-02 0.750 0.667 6 2011 2015
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.060 1.000 6 2011 2019
dbSNP: rs41341748
rs41341748
MSR1
6 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.060 1.000 6 2004 2006
dbSNP: rs4242384
rs4242384 		3 0.882 0.160 8 127506309 regulatory region variant C/A snv 0.88 0.700 1.000 6 2008 2013
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.050 0.800 5 2010 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.050 1.000 5 2005 2019
dbSNP: rs10896449
rs10896449 		7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.720 1.000 5 2008 2013
dbSNP: rs10941112
rs10941112
AMACR ; C1QTNF3-AMACR
4 0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38 0.050 0.800 5 2002 2015
dbSNP: rs137852603
rs137852603
MXI1
1 1.000 0.080 10 110280017 missense variant A/C snv 0.800 1.000 5 2008 2015
dbSNP: rs16901966
rs16901966
PCAT1 ; CASC19
3 0.925 0.080 8 127098007 intron variant A/G snv 0.13 0.730 1.000 5 2008 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 1.000 5 2010 2018