Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs944289 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 16
rs116909374 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 11
rs16962916 0.925 16 13806476 intergenic variant A/C;G snv 2
rs17739370 0.925 4 177374275 intergenic variant C/T snv 0.38 2
rs7267944 0.925 20 39318791 intergenic variant T/C snv 0.25 2
rs13184587
ARSB
0.925 5 78910960 intron variant G/A;T snv 2
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 11
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs10808556
CASC8 ; POU5F1B ; PCAT1 ; CCAT2
0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 2
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 8
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 12
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2296241
CYP24A1
0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 12
rs927650
CYP24A1
0.763 0.240 20 54156202 intron variant T/A;C snv 9
rs2248137
CYP24A1
0.827 0.160 20 54173204 intron variant C/G snv 0.49 5
rs4646536
CYP27B1
0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 14
rs10877012
CYP27B1 ; METTL1
0.763 0.280 12 57768302 intron variant G/C;T snv 10
rs2480258
CYP2E1
1.000 10 133538596 intron variant T/C snv 0.63 1
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs12794714
CYP2R1
0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 15