Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv 6
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs730882147
MED20
0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 5
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs1057519087
MFSD2A
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 4
rs138490803
COQ7
0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 3
rs864321686
COQ7
0.925 0.120 16 19075775 missense variant T/A snv 3
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs895293055
MED20
0.851 0.080 6 41909351 frameshift variant C/- delins 5
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54