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: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 1998 1998
dbSNP: rs61748411
rs61748411
MECP2
3 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011
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: 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: 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: rs775129479
rs775129479
IGFALS ; SPSB3
6 0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs781587642
rs781587642
TUBA4A ; STK16
6 0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2017 2017
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: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs80356702
rs80356702
CLCN1
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2007 2007
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C 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
dbSNP: rs11142387
rs11142387 		7 9 70383416 downstream gene variant A/C snv 0.49 0.010 1.000 1 2017 2017
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: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2019 2019