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: rs9951307
rs9951307
AQP4-AS1
5 0.882 0.120 18 26850565 intron variant G/A snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs9877502
rs9877502 		3 0.925 0.080 3 190951729 intergenic variant G/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs9526984
rs9526984
KL
2 1.000 0.040 13 33035800 intron variant A/G snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs8191664
rs8191664
NEIL2
7 0.807 0.200 8 11786044 missense variant G/A;C;T snv 4.0E-05; 3.8E-02 0.010 1.000 1 2011 2011
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: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 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: rs7759295
rs7759295
LOC105375056
2 1.000 0.040 6 41168112 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs772720363
rs772720363
CHRNA4
2 1.000 0.040 20 63350819 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7700443
rs7700443 		1 5 85876294 intergenic variant T/G snv 0.57 0.700 1.000 1 2014 2014
dbSNP: rs769449
rs769449
APOE
11 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.710 1.000 1 2014 2014
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: rs761715536
rs761715536
ADRA2A
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 1.000 7 2006 2020
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs747105516
rs747105516
PSPH
5 0.851 0.120 7 56015139 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs73643144
rs73643144
TEK
1 9 27126454 intron variant T/C snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs7157599
rs7157599
DEGS2
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2013 2013
dbSNP: rs6910730
rs6910730
TREM1
3 0.925 0.080 6 41278895 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63751287
rs63751287
PSEN1
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2019 2019