Source: CURATED ×
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
36 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 1 2016 2019
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs121918358
rs121918358
SPG7
5 0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 0.700 1.000 1 2016 2016
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
14 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518988
rs1057518988
GRIN2B
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs1553878395
rs1553878395
SEPSECS
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
7 0.851 0.080 2 240789246 missense variant G/A snv 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs730882198
rs730882198
SPART
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C delins 0.700 0
dbSNP: rs730882234
rs730882234
PTRH2
4 0.925 17 59697725 missense variant T/G snv 0.700 0
dbSNP: rs797046006
rs797046006
SPTBN2
1 11 66715958 missense variant T/C snv 0.700 0
dbSNP: rs876661219
rs876661219
GRIN2B
2 1.000 12 13571891 missense variant A/C;G snv 0.700 0