Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1014290 0.827 0.280 4 10000237 intron variant G/A snv 0.72 4
rs7947224 1.000 0.040 11 100002678 intron variant T/C snv 0.39 1
rs1131692272 0.851 0.240 2 100006808 missense variant C/T snv 1
rs545854 0.882 0.160 8 10002570 intron variant G/C snv 0.85 2
rs1190983
EVL
0.925 0.080 14 100031649 intron variant T/C snv 0.61 2
rs10883437 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 1
rs4965272 1.000 0.040 15 100044534 intron variant T/A;G snv 0.35 1
rs3750716 0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03 2
rs3755955 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 2
rs41274221 0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 6
rs1534309 1.000 0.040 7 100098747 intron variant C/A;G;T snv 8.0E-06; 0.81; 1.2E-05 1
rs2070215 1.000 0.040 7 100099174 missense variant T/C snv 0.24 0.20 1
rs999885 0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46 2
rs144351944 1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04 1
rs3760753 1.000 0.040 19 10011783 upstream gene variant G/A;T snv 1
rs9811920 1.000 0.040 3 100125449 intron variant G/A snv 0.43 1
rs2233789 0.925 0.040 19 10013026 upstream gene variant C/A;T snv 2
rs941898
EVL
1.000 0.040 14 100133100 intron variant G/T snv 0.81 1
rs1813443 1.000 0.040 11 100140279 intron variant G/A;C snv 1
rs2862954 0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32 2
rs202247814 1.000 0.080 13 100155090 missense variant G/A snv 2
rs796052019 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 2
rs7157599 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 3
rs17185536 1.000 0.080 6 100173055 upstream gene variant C/G;T snv 1
rs148789453 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 3