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: rs1016988
rs1016988 		4 5 132408882 upstream gene variant T/C snv 0.20 0.800 1.000 1 2009 2009
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs2522056
rs2522056
IRF1-AS1
4 5 132466034 intron variant G/A snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs511154
rs511154 		3 3 136232079 intergenic variant A/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1539019
rs1539019
NLRP3
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.800 1.000 2 2009 2011
dbSNP: rs6056
rs6056
FGB
3 4 154567669 synonymous variant C/T snv 0.17 0.15 0.800 1.000 2 2009 2011
dbSNP: rs10034922
rs10034922 		3 4 154599476 downstream gene variant G/A snv 5.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs12511469
rs12511469 		3 4 154530607 downstream gene variant T/A snv 0.18 0.800 1.000 1 2011 2011
dbSNP: rs12651106
rs12651106
DCHS2
3 4 154379907 intron variant C/A snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs17690122
rs17690122 		3 5 132532143 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1800787
rs1800787
FGB
4 1.000 0.040 4 154562863 upstream gene variant C/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs1800788
rs1800788
FGB
3 4 154562762 upstream gene variant C/T snv 0.18 0.800 1.000 1 2011 2011
dbSNP: rs1800790
rs1800790
FGB
9 0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs2059503
rs2059503
FGB
3 4 154572267 downstream gene variant A/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs2066861
rs2066861
FGG
5 4 154606284 intron variant C/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2070016
rs2070016
FGA
4 1.000 0.040 4 154589162 intron variant A/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs2073643
rs2073643
SLC22A5
4 1.000 0.080 5 132387596 intron variant T/C snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs2158177
rs2158177
TH2LCRR
5 0.925 0.120 5 132648366 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs2227421
rs2227421
FGB
3 4 154571072 3 prime UTR variant A/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs270607
rs270607
SLC22A4 ; MIR3936HG
3 5 132313493 intron variant A/G snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs3091307
rs3091307
TH2LCRR
6 0.925 0.160 5 132653444 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs4220
rs4220
FGB
6 0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15 0.700 1.000 1 2011 2011
dbSNP: rs4463047
rs4463047 		3 4 154574381 downstream gene variant T/C snv 0.15 0.700 1.000 1 2011 2011