Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs201518227
TOR1AIP1
1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs1565538350
TPI1
0.851 0.200 12 6870074 missense variant G/A snv 7
rs1057518943
IGHMBP2
1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 5
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs773690764
IGHMBP2
11 68917781 stop gained C/T snv 4.0E-06 1.4E-05 4