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: rs1057518083
rs1057518083
DYNC1H1
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs362569
rs362569
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10266085 intron variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs227283
rs227283
MANBA
2 0.925 0.120 4 102686096 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6108461
rs6108461
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10286622 intron variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs362549
rs362549
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10289242 intron variant A/G snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.810 1.000 2 2013 2015
dbSNP: rs362990
rs362990
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10295573 intron variant A/T snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs362998
rs362998
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10296973 synonymous variant C/T snv 0.11 0.11 0.010 1.000 1 2017 2017
dbSNP: rs7914558
rs7914558
CNNM2
5 0.851 0.040 10 103016151 intron variant G/A snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.040 1.000 4 2007 2018
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.030 0.667 3 2007 2013
dbSNP: rs8636
rs8636
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10307094 3 prime UTR variant T/A;C snv 0.020 1.000 2 2012 2017
dbSNP: rs11191580
rs11191580
NT5C2
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs736707
rs736707
RELN ; LOC101927870
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs7341475
rs7341475
RELN
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1592757
rs1592757 		1 1.000 0.040 5 104554297 intron variant G/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs325485
rs325485
LOC105379109
2 0.925 0.120 5 104659667 intron variant A/G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs11591402
rs11591402
SORCS3
1 1.000 0.040 10 104987596 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs9297357
rs9297357
ZFPM2 ; LOC105375695
5 0.851 0.040 8 105130105 intron variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11074889
rs11074889
EMP2
1 1.000 0.040 16 10539308 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs6539247
rs6539247
NUAK1
1 1.000 0.040 12 106066124 3 prime UTR variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2230460
rs2230460
PIK3CG
2 0.925 0.040 7 106884244 synonymous variant C/T snv 0.12 8.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs12536620
rs12536620
PIK3CG
1 1.000 0.040 7 106904783 intron variant A/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs12667819
rs12667819
PIK3CG
1 1.000 0.040 7 106906212 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs12871532
rs12871532 		5 0.851 0.040 13 108016199 intergenic variant T/C snv 0.46 0.800 1.000 1 2013 2013