Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.710 1.000 1 2012 2012
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs63750886
rs63750886
PSEN1
5 0.851 0.080 14 73198072 missense variant C/G snv 0.700 1.000 1 2003 2003
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518873
rs1057518873
SPAST
1 2 32144990 missense variant C/G;T snv 0.700 0
dbSNP: rs1057518874
rs1057518874
SPG11
4 15 44598738 missense variant C/A snv 0.700 0
dbSNP: rs121908511
rs121908511
SPAST
2 1.000 0.080 2 32141905 missense variant C/T snv 0.700 0
dbSNP: rs121918550
rs121918550
AAAS
5 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs201689565
rs201689565
SPG11
5 1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 0.700 0
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
7 0.851 0.080 2 240789246 missense variant G/A snv 0.700 0
dbSNP: rs672601363
rs672601363
KIF1A
6 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
dbSNP: rs672601364
rs672601364
KIF1A
4 0.925 0.040 2 240786513 missense variant C/A snv 0.700 0
dbSNP: rs672601365
rs672601365
KIF1A
4 0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs672601371
rs672601371
KIF1A
4 0.925 0.080 2 240783791 missense variant A/T snv 0.700 0
dbSNP: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs886039904
rs886039904
GJC2
6 0.851 0.200 1 228157836 frameshift variant G/- del 0.700 0
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.020 1.000 2 1993 2009
dbSNP: rs1191863771
rs1191863771
APP
3 0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004