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: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.020 1.000 2 2003 2005
dbSNP: rs121918626
rs121918626
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.080 2 166012179 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1331851285
rs1331851285
CASP1
2 1.000 0.080 11 105029220 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs202247812
rs202247812
KRAS
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2944366
rs2944366
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11011556 intron variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs402691
rs402691
PRKCG
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs5918
rs5918
ITGB3
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2017 2017
dbSNP: rs778899140
rs778899140
PDE10A
5 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.020 1.000 2 2006 2012
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2281997
rs2281997
ENHO
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3745406
rs3745406
PRKCG
6 0.851 0.080 19 53891711 missense variant T/A;C snv 4.0E-06; 0.41 0.010 1.000 1 2007 2007
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs914655
rs914655
C9orf92
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs9990174
rs9990174
SLC6A1
2 1.000 0.040 3 10998753 intron variant G/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs776423109
rs776423109
C3
2 1.000 0.120 19 6718117 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010