Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs28940893
ARSA
0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 6
rs61755771
PRPH2
0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 5
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins 5
rs1558811557
CNGA3
0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 5
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 5
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 4
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 6
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 6
rs767982852
RUBCN
0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 6
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5