Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 3
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs61755771
PRPH2
0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 5
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs61754381
LOC107984363 ; TYR
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 8
rs552184470
GUCY2D
1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03 2
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 2
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs28940893
ARSA
0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 6
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9