Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6691170 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 4
rs6687758 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 3
rs139787163
EPHA2
0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 2
rs137853200
EPHA2
0.925 0.120 1 16129440 missense variant G/A snv 1
rs1424847607
EPHA2
1.000 0.080 1 16133591 missense variant A/G snv 4.0E-06 1
rs72647484 0.790 0.080 1 22261235 regulatory region variant T/C snv 6.2E-02 1
rs7528276
MACF1
0.790 0.080 1 39344315 intron variant T/A;C snv 1
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 51
rs11903757 0.763 0.160 2 191722478 intron variant T/C snv 0.16 2
rs63751127
MSH6 ; FBXO11
0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 2
rs992157
TMBIM1 ; PNKD
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46 2
rs1367374 0.790 0.080 2 153074663 intergenic variant G/C snv 0.19 1
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs75316749
LOC107986051
0.701 0.280 3 169043635 intergenic variant A/G snv 4.2E-02 1
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 5
rs1391441
TET2-AS1 ; TET2
0.763 0.240 4 105207603 intron variant G/A snv 0.70 1
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 14
rs647161
C5orf66
0.776 0.080 5 135163402 intron variant C/A snv 0.63 2
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs7758229
SLC22A3
0.732 0.120 6 160419220 intron variant G/A;T snv 8
rs1321311 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 6
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 5
rs209489
ELOVL5
0.790 0.080 6 53312880 intron variant C/A snv 0.92 1
rs3830041
NOTCH4
0.752 0.280 6 32223562 intron variant C/T snv 0.11 1
rs4711689
TFEB
0.790 0.080 6 41725074 intron variant G/A;C snv 1