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: 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: 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: 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: 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: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.010 1.000 1 2012 2012
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: 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: 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: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
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: rs80356710
rs80356710
PRNP
3 0.925 0.040 20 4699655 stop gained T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.980 49 1986 2019
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 0.931 29 1998 2018
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: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.060 1.000 6 1991 2018
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: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 0.600 5 2013 2017
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.040 1.000 4 2000 2005
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.030 1.000 3 2003 2011
dbSNP: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.030 1.000 3 1999 2018
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.030 1.000 3 1999 2015
dbSNP: rs121918098
rs121918098
TTR
7 0.807 0.200 18 31592939 missense variant A/G snv 0.030 1.000 3 2003 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: rs28939068
rs28939068
CST3
9 0.790 0.200 20 23635330 missense variant A/T snv 0.030 1.000 3 1994 2018
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.030 1.000 3 2004 2010