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: rs2670660
rs2670660
NLRP1
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2011 2011
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 2008 2008
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs394581
rs394581
LOC105378083 ; LOC112267968
3 0.882 0.240 6 159061489 non coding transcript exon variant C/T snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs4686484
rs4686484
LPP
1 1.000 0.080 3 188400784 intron variant G/A snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs4946111
rs4946111 		1 1.000 0.080 6 115663255 intergenic variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs4956400
rs4956400 		1 1.000 0.080 4 141556189 intergenic variant T/C snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2012 2012
dbSNP: rs6432714
rs6432714
IFIH1
3 0.882 0.160 2 162280842 intron variant A/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs72975916
rs72975916
PTPRK
1 1.000 0.080 6 127972910 intron variant C/T snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs771541567
rs771541567
APOB
4 0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2009 2009
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs888208
rs888208
NKX2-3
3 0.882 0.080 10 99536106 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs9391227
rs9391227 		1 1.000 0.080 6 104710759 regulatory region variant T/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs9491896
rs9491896
PTPRK
1 1.000 0.080 6 127979804 intron variant G/A snv 8.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2008
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 0.500 2 2015 2016
dbSNP: rs2305764
rs2305764
MYO9B
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2010
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2012 2018