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: rs9414780
rs9414780
JMJD1C
1 1.000 0.120 10 63241673 intron variant A/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs9414788
rs9414788
JMJD1C
1 1.000 0.120 10 63296952 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs953387
rs953387 		1 1.000 0.120 2 136149600 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs11466018
rs11466018
MEFV
7 0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs12598357
rs12598357 		15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs16918575
rs16918575
REEP3
1 1.000 0.120 10 63541565 intron variant A/G snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs17466626
rs17466626
LRRK2 ; LOC105369736
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs2348071
rs2348071
PSMA3 ; ARMH4
5 0.827 0.240 14 58263908 intron variant A/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs4625
rs4625
DAG1
17 0.716 0.280 3 49534707 3 prime UTR variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs7082090
rs7082090
JMJD1C
1 1.000 0.120 10 63239252 intron variant A/G snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs7234029
rs7234029
PTPN2
7 0.807 0.320 18 12877061 intron variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs72743477
rs72743477
SMAD3
14 0.724 0.240 15 67171953 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1018981
rs1018981
LOC105375246
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2807264
rs2807264 		14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2015 2015