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: rs760818649
rs760818649
SPG7
2 0.925 0.080 16 89531963 frameshift variant C/-;CC delins 0.700 1.000 6 2008 2017
dbSNP: rs66468541
rs66468541
HSPD1
4 0.925 0.080 2 197497275 missense variant C/T snv 0.020 1.000 2 2008 2019
dbSNP: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 1.000 1 2017 2017
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: rs1331686243
rs1331686243
NIPA1
1 1.000 0.080 15 22812234 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1377512692
rs1377512692
APP
1 1.000 0.080 21 25905062 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1553316816
rs1553316816
SPAST
2 0.925 0.080 2 32126982 missense variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554524697
rs1554524697
CYP7B1
1 1.000 0.080 8 64615168 frameshift variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1555177629
rs1555177629
KIF5A
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555177824
rs1555177824
KIF5A
1 1.000 0.080 12 57569269 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555177831
rs1555177831
KIF5A
1 1.000 0.080 12 57569304 missense variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1555394376
rs1555394376
ZFYVE26
1 1.000 0.080 14 67762275 frameshift variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs312262720
rs312262720
SPG11
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs387907288
rs387907288
KIF5A
2 0.925 0.080 12 57569275 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
2 0.925 0.080 9 35737335 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs587777132
rs587777132
ALS2
3 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs587777757
rs587777757
SPAST
2 0.925 0.080 2 32128450 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs770388772
rs770388772
SPAST
1 1.000 0.080 2 32136629 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs878854991
rs878854991
SPAST
5 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs890815306
rs890815306
APP
1 1.000 0.080 21 25997377 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs786200949
rs786200949
KIF1A
4 0.851 0.120 2 240788208 missense variant G/A 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 1.000 1 2017 2017
dbSNP: rs116171274
rs116171274
CYP7B1
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.710 1.000 2 2016 2017
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 15 2006 2018
dbSNP: rs562890289
rs562890289
SPG7
1 1.000 0.080 16 89544770 stop gained C/T snv 1.2E-05 3.5E-05 0.700 1.000 1 2017 2017