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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2013 2019
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: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11142387
rs11142387 		7 9 70383416 downstream gene variant A/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs8074995
rs8074995
PRKCA
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs536551654
rs536551654
NGFR ; LOC100288866
2 1.000 0.120 17 49511972 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.020 1.000 2 2002 2018
dbSNP: rs63751011
rs63751011
MAPT
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2012 2017
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763868966
rs763868966
GFAP
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 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: 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: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs2732260
rs2732260
FUT10
5 0.882 0.200 8 33431749 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12273363
rs12273363
BDNF
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2018 2018