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: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
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: 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: 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: 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: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs1057518936
rs1057518936
PNPLA6
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs374434303
rs374434303
PNPLA6
4 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 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: 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: 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: 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: 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: rs1555475794
rs1555475794
STUB1 ; JMJD8
7 0.925 0.120 16 682729 3 prime UTR variant T/C snv 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
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