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: rs104895127
rs104895127
MEFV
1 1.000 0.200 16 3254342 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104895304
rs104895304
MVK
5 0.827 0.280 12 109591275 missense variant T/C snv 1.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs104895308
rs104895308
MVK
3 0.882 0.200 12 109595118 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs104895319
rs104895319
MVK
4 0.851 0.240 12 109595070 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs104895321
rs104895321
MVK
4 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs104895366
rs104895366
MVK
1 1.000 0.200 12 109590802 missense variant A/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs104895382
rs104895382
MVK
4 0.851 0.240 12 109579921 missense variant T/C snv 3.2E-05 7.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs11614976
rs11614976
MVK
2 0.925 0.200 12 109595145 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121917789
rs121917789
MVK
2 0.925 0.200 12 109595044 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1304512133
rs1304512133
NLRC4
1 1.000 0.200 2 32251138 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs138258349
rs138258349
DNAH8
2 0.925 0.200 6 38737215 missense variant T/C snv 6.4E-05 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs144069312
rs144069312
MVK ; MMAB
2 0.925 0.200 12 109574893 missense variant A/C snv 4.1E-06; 4.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1450500
rs1450500
GRID2
2 1.000 0.200 4 92558124 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs146442638
rs146442638
NLRP3
1 1.000 0.200 1 247424238 missense variant C/A;T snv 8.0E-06; 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs148576029
rs148576029
MVK
2 0.925 0.200 12 109590850 missense variant A/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs185313167
rs185313167
SQSTM1
2 0.925 0.200 5 179833083 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs202172198
rs202172198
MVK
2 0.925 0.200 12 109586086 missense variant G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs372446928
rs372446928
NUP62 ; IL4I1
2 0.925 0.200 19 49909008 missense variant G/A snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs7134594
rs7134594
MMAB
4 1.000 0.200 12 109562388 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs753716740
rs753716740
NUP62 ; IL4I1
2 0.925 0.200 19 49909002 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs778608015
rs778608015
ANXA5
2 0.925 0.200 4 121669702 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017