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: rs2307441
rs2307441
POLG
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2010 2010
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: 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: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.030 1.000 3 2007 2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
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: 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: 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: rs771578775
rs771578775
COQ8A
3 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012
dbSNP: rs267607044
rs267607044
SETX
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs1424215334
rs1424215334
SLC3A1
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs119456965
rs119456965
SIL1
3 1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
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: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.020 1.000 2 2002 2010
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs104894699
rs104894699
KCNC3
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2009 2009
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: rs120074125
rs120074125
SMPD1
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007