Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12527379 1.000 0.080 6 131958700 intron variant G/A snv 0.31 1
rs1371367785 1.000 0.080 11 70206265 missense variant G/A snv 4.0E-06 7.0E-06 1
rs1365611 0.925 0.080 4 174462542 intergenic variant C/T snv 0.28 2
rs2332897 0.925 0.080 4 174465154 intergenic variant C/A;G snv 0.29 2
rs6844282 0.925 0.080 4 174460480 regulatory region variant C/A;G snv 2
rs41395947 0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06 2
rs41494447 0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04 2
rs8086 0.925 0.080 4 184756267 3 prime UTR variant C/T snv 0.24 2
rs3811802 0.925 0.080 4 99323064 intron variant A/C;G;T snv 2
rs4147536 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 2
rs283415 0.925 0.080 4 99349450 intron variant C/T snv 0.64 2
rs1724120 0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 2
rs1238788540 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 2
rs12485716 0.925 0.080 3 122260843 intron variant G/A snv 0.36 2
rs17250717 0.925 0.080 3 122261339 intron variant G/T snv 7.4E-02 2
rs1802757 0.925 0.080 3 122286284 3 prime UTR variant C/T snv 0.17 2
rs3804592 0.925 0.080 3 122260382 intron variant G/A snv 0.18 2
rs4678174 0.925 0.080 3 122282024 intron variant C/T snv 0.56 2
rs2470144 0.925 0.080 15 51329528 intron variant T/C snv 0.60 2
rs1287152741 0.925 0.080 5 80633984 missense variant C/T snv 8.0E-06 1.4E-05 2
rs3744400 0.925 0.080 17 7260404 synonymous variant A/C;G snv 4.1E-02; 8.0E-06; 4.0E-06 2.4E-02 2
rs2302313
EPX ; MKS1
0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02 2
rs4932178 0.925 0.080 15 90868426 upstream gene variant C/T snv 0.32 2
rs680 0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78 2
rs8191754 0.925 0.080 6 160027292 missense variant C/G snv 0.13 0.13 2