Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755622 0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs9349379 0.732 0.200 6 12903725 intron variant A/G snv 0.32 19
rs11172113 0.882 0.080 12 57133500 intron variant T/C snv 0.42 10
rs1518111 0.790 0.360 1 206771300 intron variant T/C snv 0.71 9
rs1518110 0.851 0.160 1 206771516 intron variant A/C;T snv 5
rs2651899 0.882 0.040 1 3167148 intron variant T/A;C snv 5
rs3761422 1.000 0.040 22 24430704 intron variant T/C snv 0.62 4
rs2072806 1.000 0.040 6 26384865 intron variant C/G snv 7.7E-02 2
rs1555132 20 32458764 intron variant C/A snv 0.44 1
rs17220352 9 116485780 intron variant A/G snv 0.21 1
rs2036465 1 39110310 intron variant A/C;G snv 1
rs2895526 10 12684062 intron variant T/A;G snv 1
rs4596713
FXN
9 69084300 intron variant C/T snv 0.61 1
rs56304645 1 3168622 intron variant C/T snv 0.25 1
rs6606710 12 109411098 intron variant T/C snv 0.50 1
rs7300001 12 110143926 intron variant A/G;T snv 1
rs9486715 6 96611893 intron variant A/C snv 0.36 1
rs1835740 0.882 0.040 8 97154685 intergenic variant T/C snv 0.75 5
rs34097149 3 154545386 intergenic variant T/C snv 2.0E-02 1
rs4941139 18 62495558 intergenic variant T/C snv 0.31 1
rs7555006 1 51014586 intergenic variant A/G snv 0.48 1
rs201943194 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs267607261 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs1563452941 0.882 0.120 8 42437137 stop gained C/A snv 13
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 7