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: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs878853322
rs878853322
PPT1
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878853323
rs878853323
PPT1
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
PPT1
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs672601366
rs672601366
KIF1A
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs9637454
rs9637454
KCNMB2 ; KCNMB2-AS1
3 0.882 0.120 3 178539774 intron variant G/A snv 0.23 0.010 < 0.001 1 2016 2016
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs730882147
rs730882147
MED20
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772037717
rs772037717
FBXL4
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs895293055
rs895293055
MED20
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 < 0.001 1 2016 2016
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs10761482
rs10761482
ANK3
4 0.851 0.120 10 60325579 intron variant T/C snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1133174
rs1133174
SORL1
3 0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2014 2014
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
dbSNP: rs2298813
rs2298813
SORL1
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4935774
rs4935774
SORL1 ; LOC105369536
2 0.925 0.080 11 121451045 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs7127507
rs7127507
BDNF ; BDNF-AS
6 0.827 0.080 11 27693337 intron variant T/C snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019