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: 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: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
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: rs370579379
rs370579379
RBP4 ; FFAR4
6 0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
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: rs1217777010
rs1217777010
APOA1 ; APOA1-AS
1 1.000 0.040 11 116836182 missense variant C/T snv 4.0E-06 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: rs387906536
rs387906536
LYZ
6 0.851 0.200 12 69350215 missense variant T/A;C snv 0.030 1.000 3 2014 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: rs104895219
rs104895219
TNFRSF1A
5 0.827 0.240 12 6333823 missense variant G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs121913547
rs121913547
LYZ
7 0.807 0.200 12 69350192 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121913549
rs121913549
LYZ
3 0.882 0.200 12 69350194 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1454603223
rs1454603223
LYZ
1 1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
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: 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: 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: 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: 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: 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: rs28940578
rs28940578
MEFV
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.020 1.000 2 2001 2017
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: 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: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001