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: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2019 2019
dbSNP: rs6759180
rs6759180
RRM2
1 1.000 0.080 2 10126436 intron variant G/A snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs779901
rs779901
IRAK2
1 1.000 0.080 3 10228274 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12769316
rs12769316
NFKB2
3 0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13 0.020 1.000 2 2018 2019
dbSNP: rs5742714
rs5742714
IGF1 ; HELLPAR ; LINC02456
3 0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs7897947
rs7897947
NFKB2
1 1.000 0.080 10 102397954 intron variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.23 0.020 1.000 2 2018 2019
dbSNP: rs11574852
rs11574852
NFKB2
1 1.000 0.080 10 102401718 intron variant A/C snv 2.3E-02 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2071230
rs2071230
MMP1 ; WTAPP1
3 0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.020 1.000 2 2013 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2014
dbSNP: rs774188914
rs774188914
ERCC5 ; BIVM-ERCC5
4 0.851 0.200 13 102858296 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.030 1.000 3 2011 2014
dbSNP: rs199475643
rs199475643
PAH
3 0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 0.857 7 2011 2015
dbSNP: rs861537
rs861537
KLC1 ; XRCC3 ; LOC112268131
1 1.000 0.080 14 103700738 intron variant C/T snv 0.61 0.61 0.010 1.000 1 2013 2013
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.020 1.000 2 2013 2014