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: 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
dbSNP: rs28933381
rs28933381
KCNA1
4 0.925 0.080 12 4912102 missense variant G/C snv 0.010 < 0.001 1 2013 2013
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: 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: 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: 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: 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