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: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.700 0
dbSNP: rs146170087
rs146170087
C19orf12
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1557136818
rs1557136818
MECP2
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs515726205
rs515726205
C19orf12
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs63751011
rs63751011
MAPT
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs765061840
rs765061840
SPG11
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 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: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1206642175
rs1206642175
ESR1
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008