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: 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: rs1473654052
rs1473654052
DOCK11
2 0.925 0.080 X 118542729 missense variant A/C snv 9.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019
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: rs121918098
rs121918098
TTR
7 0.807 0.200 18 31592939 missense variant A/G snv 0.030 1.000 3 2003 2019
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
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: 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
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1309900188
rs1309900188
GSN
1 1.000 0.040 9 121312342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
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: rs28939068
rs28939068
CST3
9 0.790 0.200 20 23635330 missense variant A/T snv 0.030 1.000 3 1994 2018
dbSNP: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001
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: 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: rs1294297409
rs1294297409
TTR
1 1.000 0.040 18 31592996 missense variant C/A snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs529782627
rs529782627
APP
3 0.882 0.120 21 26112051 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
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: 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: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2010 2010
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