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: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs1864183
rs1864183
ATG10
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2017 2017
dbSNP: rs748148861
rs748148861
CCR6
2 0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
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 2016 2016
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 2016 2016
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2014 2015
dbSNP: rs13078
rs13078
DICER1
5 0.827 0.280 14 95090410 3 prime UTR variant A/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs6877842
rs6877842
DROSHA ; C5orf22
7 0.807 0.320 5 31532531 intron variant G/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.030 1.000 3 2014 2015
dbSNP: rs50871
rs50871
ERCC2
2 0.925 0.120 19 45359257 intron variant C/A snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
dbSNP: rs4253211
rs4253211
ERCC6
3 0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2014 2016
dbSNP: rs4725443
rs4725443
KMT2C
2 0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs6464211
rs6464211
KMT2C
2 0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34 0.010 1.000 1 2016 2016