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: rs1204135596
rs1204135596
NLRP3
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1424748509
rs1424748509
TNFRSF1A
1 12 6330859 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs41550816
rs41550816
HLA-B ; HLA-C
1 6 31271178 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs755789256
rs755789256
EXOC1
1 4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs766778566
rs766778566
MEFV
1 16 3243532 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs781431904
rs781431904
PSEN1
1 14 73192663 missense variant A/G snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1055229
rs1055229
LINC01857
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs12477677
rs12477677
LINC01857
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12939622
rs12939622
DDX52
2 1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs2227288
rs2227288
CD320
2 1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs4262994
rs4262994
SYNRG
2 1.000 0.040 17 37591398 intron variant A/C snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs5743507
rs5743507
BPI
2 1.000 20 38310650 splice region variant G/C snv 9.4E-02 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs7805622
rs7805622
LOC100240728
2 7 56483270 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs876538
rs876538 		2 1 159705927 upstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs199473092
rs199473092
SCN5A
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473143
rs199473143
SCN5A
3 0.925 0.080 3 38597949 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs747753882
rs747753882
TLR1
3 0.925 0.120 4 38797482 synonymous variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs7849782
rs7849782
GRIN3A
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057518827
rs1057518827
NLRP3
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0