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: rs3512
rs3512
FAN1 ; MTMR10
4 0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs755221106
rs755221106
CACNA1G
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
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 3 2016 2019
dbSNP: rs118204095
rs118204095
HMBS
3 1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs118204096
rs118204096
HMBS
3 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs1318256630
rs1318256630
SPTBN2
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
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: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.010 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: rs58332872
rs58332872
NEFL
5 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.010 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: rs143319805
rs143319805
OPA1
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 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: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs770684782
rs770684782
SETX
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs201754030
rs201754030
TSFM
5 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs587777343
rs587777343
STUB1 ; JMJD8
5 0.925 0.120 16 682232 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs28933381
rs28933381
KCNA1
4 0.925 0.080 12 4912102 missense variant G/C snv 0.010 < 0.001 1 2013 2013