Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4585 1.000 0.080 11 108368901 3 prime UTR variant G/T snv 0.53 1
rs13053109 1.000 0.080 21 43168609 non coding transcript exon variant G/C snv 4.1E-05 1
rs3761382 1.000 0.080 21 43168313 intron variant C/T snv 1
rs199980747 1.000 0.080 5 107670512 synonymous variant G/A snv 1.7E-04 7.0E-05 1
rs200187971 1.000 0.080 5 107670640 5 prime UTR variant G/A;C snv 4.6E-06; 1.1E-02 1
rs201008479 1.000 0.080 5 107381274 missense variant G/A snv 4.6E-04 1.9E-04 1
rs144581330
EZR
1.000 0.080 6 158789367 missense variant T/C snv 1.7E-03 5.4E-04 1
rs2242318
EZR
1.000 0.080 6 158767096 intron variant A/G snv 0.62 0.67 1
rs5881286
EZR
1.000 0.080 6 158766846 3 prime UTR variant CA/- delins 0.41 1
rs12432994 1.000 0.080 14 103672302 intron variant C/T snv 0.22 1
rs7150141 1.000 0.080 14 103663015 intron variant G/A snv 0.33 1
rs7154572 1.000 0.080 14 103639077 intron variant C/T snv 0.27 1
rs10981985 1.000 0.080 9 97405289 intron variant G/A snv 0.12 1
rs4639 1.000 0.080 8 11787242 3 prime UTR variant A/G snv 0.39 1
rs2278414 1.000 0.080 19 51964569 3 prime UTR variant G/A snv 0.11 1
rs477558 0.925 0.080 1 17893333 intergenic variant G/A snv 0.54 2
rs7548209 0.925 0.080 1 16122127 downstream gene variant G/C snv 0.36 2
rs6657114 0.925 0.120 1 147905591 upstream gene variant G/T snv 0.27 2
rs7541950 0.925 0.120 1 147903855 upstream gene variant C/T snv 0.55 2
rs2132397 0.925 0.120 1 147909431 downstream gene variant A/G snv 0.17 2
rs74641138
MIP
0.925 0.080 12 56454295 missense variant C/T snv 2.4E-02 2.0E-02 2
rs7278468 0.882 0.280 21 43168647 upstream gene variant T/A;G snv 3
rs2057768 0.925 0.120 16 27310774 upstream gene variant C/A;G;T snv 4
rs2107356 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 4
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6