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: 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
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.020 1.000 2 2008 2018
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: rs104894699
rs104894699
KCNC3
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 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: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 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: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
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: 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: 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: 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
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998