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: rs970866
rs970866
B4GALT6
4 0.851 0.160 18 31681955 intron variant C/T snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs2279590
rs2279590
CLU
5 0.851 0.200 8 27598736 non coding transcript exon variant T/C snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs7982
rs7982
CLU
1 1.000 0.040 8 27604964 missense variant A/C;G snv 0.64 0.60 0.010 1.000 1 2016 2016
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs10097505
rs10097505
ARC
2 0.925 0.120 8 142612823 3 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs2234246
rs2234246
TREM1
5 0.827 0.240 6 41276002 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs9331888
rs9331888
CLU ; MIR6843
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2016 2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.050 0.600 5 2013 2017
dbSNP: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs73069071
rs73069071
IAPP ; SLCO1A2
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs13031703
rs13031703
LOC105373605
2 0.925 0.120 2 127129099 intergenic variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs73956431
rs73956431
B4GALT6
6 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.020 1.000 2 2005 2006
dbSNP: rs62093482
rs62093482
TTR
1 1.000 0.040 18 31598936 3 prime UTR variant C/T snv 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs554521234
rs554521234
GAREM1
4 0.851 0.160 18 32231169 intron variant C/T snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 12 2001 2019
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.030 1.000 3 2005 2009
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 1994 1994
dbSNP: rs63750847
rs63750847
APP
8 0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2006 2006