Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del 7
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs786204585
HEXA
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 6
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs11637611
PARP6
0.851 0.160 15 72259371 intron variant C/T snv 0.63 4
rs12752888
LINC02784
0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 4
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs7840202
UBR5
0.851 0.160 8 102296172 intron variant A/C snv 0.21 4
rs121907960
HEXA
1.000 0.120 15 72349148 inframe deletion GAA/- delins 3
rs267606862
HEXA
0.882 0.160 15 72346681 stop gained C/T snv 3
rs1057519021
GM2A
0.925 0.120 5 151267341 stop gained G/T snv 2
rs28941771
HEXA
0.925 0.120 15 72353100 missense variant A/G snv 2
rs1057516640
HEXA-AS1 ; HEXA
1.000 0.120 15 72375780 frameshift variant CCTCGTCGAGG/- delins 1
rs1057516755
HEXA
1.000 0.120 15 72348075 frameshift variant TTGA/- del 1
rs1057516850
HEXA
1.000 0.120 15 72353173 frameshift variant A/- delins 1
rs1057516908
HEXA
1.000 0.120 15 72349260 splice acceptor variant C/G snv 1
rs1057516957
HEXA-AS1 ; HEXA
1.000 0.120 15 72375777 stop gained G/A snv 1
rs1057517174
HEXA
1.000 0.120 15 72353714 frameshift variant C/- del 2.1E-05 1
rs1057517296
HEXA-AS1 ; HEXA
1.000 0.120 15 72375911 frameshift variant -/TC delins 1
rs1057517348
HEXA-AS1 ; HEXA
1.000 0.120 15 72375948 frameshift variant AA/- delins 1
rs1057519458
HEXA
1.000 0.120 15 72353724 frameshift variant A/- delins 1
rs1057519459
HEXA
1.000 0.120 15 72353687 splice region variant T/G snv 1
rs1057519460
HEXA
1.000 0.120 15 72353114 missense variant T/G snv 1
rs1057519461
HEXA
1.000 0.120 15 72351168 missense variant A/G snv 1