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: rs750663981
rs750663981
SPG11
2 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0
dbSNP: rs786200949
rs786200949
KIF1A
4 0.851 0.120 2 240788208 missense variant G/A snv 0.700 0
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: rs1266102026
rs1266102026
REEP1
1 1.000 0.080 2 86282217 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2017 2017
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: rs200133991
rs200133991
C19orf12
3 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 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: rs398123012
rs398123012
GBA2
2 0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 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: rs548204329
rs548204329
KIF1A
1 1.000 0.080 2 240797722 missense variant G/A;T snv 4.1E-06 0.700 1.000 1 2017 2017
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
dbSNP: rs763958615
rs763958615
ERLIN2
1 1.000 0.080 8 37753994 missense variant A/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs768136171
rs768136171
SPG7
2 0.925 0.080 16 89529489 frameshift variant TG/- delins 8.0E-06 2.1E-05 0.700 1.000 1 1998 1998
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: rs912983346
rs912983346
SPG7
1 1.000 0.080 16 89513037 missense variant G/C snv 4.4E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1265011107
rs1265011107
WDTC1
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1313275799
rs1313275799
AP4E1
2 1.000 0.080 15 51002561 stop gained C/T snv 4.0E-06 0.010 1.000 1 2013 2013
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