Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs1057519464
HEXA
0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 7
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
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
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs121907954
HEXA
0.807 0.120 15 72350518 missense variant C/G;T snv 1.3E-04 6
rs121907972
HEXA
0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 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
rs121907953
HEXA
0.851 0.160 15 72353106 missense variant G/A snv 2.0E-05 5
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs748190164
HEXA
0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06 4
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs10805890
HEXB
0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13 4
rs12752888
LINC02784
0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 4
rs11637611
PARP6
0.851 0.160 15 72259371 intron variant C/T snv 0.63 4
rs28940279
SPATA22 ; ASPA
0.851 0.120 17 3499000 missense variant A/C snv 4.3E-04 2.7E-04 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
rs121907971
HEXA
0.882 0.120 15 72350551 missense variant C/G snv 4.0E-06 7.0E-06 3