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