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: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs80358243
rs80358243
MLC1
4 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0
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: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
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: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
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: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs752989523
rs752989523
SPG7
5 0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs770684782
rs770684782
SETX
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1568440440
rs1568440440
CACNA1A
3 0.925 0.120 19 13228767 stop gained GT/- delins 0.700 0
dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs774214806
rs774214806
GRM1
2 1.000 6 146159536 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs79267946
rs79267946
CA8
2 1.000 0.160 8 60232322 stop gained T/A;C snv 0.700 0
dbSNP: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.030 1.000 3 1999 2010
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: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2015
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
6 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.020 1.000 2 2016 2017
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.720 1.000 2 2012 2018
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2019 2019