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: rs4488809
rs4488809
TP63
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.050 1.000 5 2011 2015
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.050 0.800 5 2015 2019
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.050 0.800 5 2004 2017
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.040 0.750 4 2004 2012
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.040 1.000 4 2012 2015
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.040 1.000 4 2012 2019
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.040 0.750 4 2004 2017
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.040 1.000 4 2011 2017
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2007 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2005 2019
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.040 1.000 4 2013 2018
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.040 0.500 4 2012 2014
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.040 1.000 4 2016 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2014 2019
dbSNP: rs4324798
rs4324798 		8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.040 1.000 4 2010 2017
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.040 0.750 4 2010 2016
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2012 2018
dbSNP: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.040 1.000 4 2010 2020
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.040 1.000 4 2009 2014
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.040 1.000 4 2015 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.040 1.000 4 2008 2017
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.040 1.000 4 2011 2016
dbSNP: rs762551
rs762551
CYP1A2
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.040 1.000 4 2012 2014
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.030 0.667 3 2008 2014
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.030 1.000 3 2007 2008