Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554210073 0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1131691771 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1555565492 0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1562150844 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1135402761 0.827 0.320 12 79448958 missense variant T/C snv 11
rs886041097 0.882 0.160 4 139386152 stop gained C/G snv 9
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs144900171 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 5
rs1565922388 0.925 12 79353599 missense variant T/A snv 5
rs1565922395 0.925 12 79353602 missense variant A/G snv 5
rs1565962725 0.925 12 79448953 missense variant C/A snv 5
rs6736017 2 231108702 missense variant T/C snv 6.3E-03 2.5E-02 3
rs11819869 1.000 0.040 11 46539130 intron variant C/T snv 0.27 1
rs2110267 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 1
rs1360780 0.708 0.320 6 35639794 intron variant T/A;C snv 1
rs63750570 0.827 0.120 17 46018629 missense variant G/A snv 1
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs324981 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 1
rs11624704 1.000 0.080 14 78319734 intron variant A/C snv 0.13 1