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: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-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: 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: rs375817528
rs375817528
CAPN1
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs562740927
rs562740927
PANK2
1 1.000 0.080 20 3910728 missense variant A/G snv 2.3E-04 4.9E-05 0.010 1.000 1 2018 2018
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: rs1217391623
rs1217391623
SPG7
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs1158702707
rs1158702707
PDGFB
1 1.000 0.080 22 39231710 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
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: 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: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.010 1.000 1 1999 1999
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: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs142157346
rs142157346
FXN
4 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs374263073
rs374263073
LAMC2
3 0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2010 2010