Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs194085 1.000 0.040 5 9591303 intergenic variant A/G snv 0.15 1
rs379863
ADA
1.000 0.040 20 44632053 intron variant C/T snv 0.73 1
rs766483232 1.000 0.040 15 29114003 missense variant A/C;G snv 4.0E-06; 3.6E-04 1
rs5989681 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 1
rs241509 1.000 0.040 3 10345375 intron variant C/A;T snv 0.45 1
rs3774180 1.000 0.040 3 10355304 intron variant T/C snv 0.37 1
rs3759292 1.000 0.040 12 63153533 intron variant A/G snv 2.4E-02 1
rs201292141 1.000 0.040 11 115217961 missense variant T/G snv 3.9E-04 9.8E-05 1
rs2241694 1.000 0.040 5 150223045 missense variant A/G snv 0.92 0.94 1
rs2268494 1.000 0.040 3 8760360 intron variant T/A snv 6.2E-02 1
rs2078178 1.000 0.040 12 10123963 intron variant A/G snv 0.55 1
rs762079123 1.000 0.040 8 1771125 missense variant G/A snv 2.0E-05 1
rs1331320684 1.000 0.040 3 2988415 missense variant T/C snv 4.0E-06 1
rs369867547 1.000 0.040 7 147903657 missense variant G/A snv 8.0E-06 7.0E-06 1
rs1396313317 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 1
rs2237659 1.000 0.040 7 107207047 intron variant T/G snv 0.19 1
rs769224 1.000 0.040 22 19964281 synonymous variant G/A snv 3.0E-02 4.4E-02 1
rs1564950387 1.000 0.040 11 687909 splice donor variant A/C snv 1
rs10418707 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 1
rs10423341 1.000 0.040 19 10156590 intron variant C/A snv 0.13 1
rs374450077 1.000 0.040 7 154769497 missense variant C/T snv 8.8E-05 2.4E-04 1
rs1026306398
EN2
1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 1
rs2361689
EN2
1.000 0.040 7 155462637 synonymous variant T/C snv 0.36 0.36 1
rs11155819 1.000 0.040 6 151878224 intron variant T/C snv 0.25 1
rs1152582 1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv 1