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: rs3762318
rs3762318
C1orf141
3 0.925 0.040 1 67131436 intron variant G/A snv 0.83 0.810 1.000 2 2011 2016
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2015 2015
dbSNP: rs2024825
rs2024825
C1orf141
1 1.000 0.040 1 67132294 intron variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2221593
rs2221593
BATF3
1 1.000 0.040 1 212700089 upstream gene variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs28362807
rs28362807
FCN3
1 1.000 0.040 1 27371297 intron variant -/TATTTGGCC ins 0.32 0.010 1.000 1 2017 2017
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: rs3753395
rs3753395
CFH
5 0.882 0.120 1 196717522 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4494157
rs4494157
FCN3
1 1.000 0.040 1 27370346 intron variant G/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs532781899
rs532781899
FCN3
2 0.925 0.040 1 27373180 frameshift variant G/- delins 1.6E-02 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2058660
rs2058660
IL18RAP
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs76886731
rs76886731
IL18R1 ; IL1RL1
1 1.000 0.040 2 102328956 intron variant A/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs12631031
rs12631031
PARL
2 0.925 0.040 3 183857982 intron variant G/A snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2228048
rs2228048
TGFBR2
2 0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs3856834
rs3856834
LINC00690
1 1.000 0.040 3 16540153 intron variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs6807915
rs6807915 		1 1.000 0.040 3 12272347 intergenic variant T/C snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs744751
rs744751
TGFBR2
1 1.000 0.040 3 30694445 upstream gene variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs7653061
rs7653061
PARL ; MIR4448
2 0.925 0.040 3 183886132 intron variant T/G snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.020 1.000 2 2009 2013
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.020 1.000 2 2010 2013
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs3097940
rs3097940
LINC01091
1 1.000 0.040 4 123863618 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2017 2017
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019