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: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.720 1.000 2 2012 2018
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: 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: 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: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs141659620
rs141659620
SPG7
5 0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1554943158
rs1554943158
DEAF1
6 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
9 0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
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: rs72547551
rs72547551
SPG7
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
SPG7
5 0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016
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: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
SPG7
5 0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs879253798
rs879253798
SPG7
3 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
9 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518936
rs1057518936
PNPLA6
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs121908681
rs121908681
PLA2G6
7 0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0