Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 3
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins 5
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
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
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs121907986
HEXB
0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 3
rs786205579
PRPH2
0.925 0.120 6 42721838 missense variant C/T snv 2
rs781584789
MANBA
1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04 1
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 3
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87