Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 36
rs786200949
KIF1A
0.851 0.120 2 240788208 missense variant G/A snv 4
rs104894490
NIPA1
0.827 0.240 15 22812252 missense variant G/A;C snv 3
rs116171274
CYP7B1
0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 3
rs121908613
CYP7B1
0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 3
rs200133991
C19orf12
0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 3
rs1553316816
SPAST
0.925 0.080 2 32126982 missense variant T/A;G snv 2
rs1555177629
KIF5A
0.925 0.120 12 57567514 missense variant C/T snv 2
rs387907288
KIF5A
0.925 0.080 12 57569275 missense variant G/A snv 2
rs398123012
GBA2
0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 2
rs398123015
CREB3 ; GBA2
0.925 0.080 9 35737335 missense variant C/T snv 2
rs864622269
ATL1
0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 2
rs878854991
SPAST
0.882 0.080 2 32141906 missense variant G/A snv 2
rs1266102026
REEP1
1.000 0.080 2 86282217 missense variant C/G;T snv 4.0E-06 1
rs1555177824
KIF5A
1.000 0.080 12 57569269 missense variant C/T snv 1
rs1555177831
KIF5A
1.000 0.080 12 57569304 missense variant G/C snv 1
rs367916692
CYP7B1
0.925 0.080 8 64596914 missense variant G/A snv 5.2E-05 7.0E-06 1
rs548204329
KIF1A
1.000 0.080 2 240797722 missense variant G/A;T snv 4.1E-06 1
rs562890289
SPG7
1.000 0.080 16 89544770 stop gained C/T snv 1.2E-05 3.5E-05 1
rs587777132
ALS2
0.882 0.120 2 201728592 stop gained G/A;T snv 1
rs587777757
SPAST
0.925 0.080 2 32128450 missense variant A/G snv 1
rs66468541
HSPD1
0.925 0.080 2 197497275 missense variant C/T snv 1
rs763958615
ERLIN2
1.000 0.080 8 37753994 missense variant A/G;T snv 8.0E-06 1
rs912983346
SPG7
1.000 0.080 16 89513037 missense variant G/C snv 4.4E-06 7.0E-06 1
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10