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: rs1440063914
rs1440063914
KIDINS220
2 0.925 0.080 2 8779781 missense variant T/C snv 0.010 1.000 1 2001 2001
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: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2016 2016
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: rs201564694
rs201564694
APCS
3 0.882 0.120 1 159588626 missense variant T/C snv 0.010 1.000 1 2009 2009
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: 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: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs371557337
rs371557337
DCTN4
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs387906523
rs387906523
TTR
3 0.882 0.160 18 31593025 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs535229743
rs535229743
GSN
1 1.000 0.040 9 121327419 missense variant G/A;C snv 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: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2010 2010
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: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2013 2013
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: 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: 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: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs80356710
rs80356710
PRNP
3 0.925 0.040 20 4699655 stop gained T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs933476040
rs933476040
TTR
2 0.925 0.120 18 31595130 missense variant G/A snv 0.010 1.000 1 2016 2016