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: rs6734238
rs6734238 		8 1.000 0.080 2 113083453 upstream gene variant A/G snv 0.39 0.800 1.000 3 2013 2017
dbSNP: rs715
rs715
CPS1
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs11230201
rs11230201
MS4A4A ; MS4A4E
2 1.000 0.080 11 60229521 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs1800789
rs1800789
FGB
4 1.000 0.040 4 154561591 upstream gene variant G/A snv 0.17 0.800 1.000 2 2009 2013
dbSNP: rs6054
rs6054
FGB
6 1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03 0.800 1.000 2 2011 2016
dbSNP: rs61812598
rs61812598
IL6R
4 1.000 0.080 1 154447611 intron variant G/A snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs11780978
rs11780978
PLEC
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs148685782
rs148685782
FGG
4 1.000 0.080 4 154611883 missense variant G/C snv 1.9E-03 2.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs16844401
rs16844401
HGFAC
4 1.000 0.040 4 3447925 missense variant G/A;T snv 7.5E-02; 8.3E-06 0.800 1.000 1 2013 2013
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: 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: rs2801231
rs2801231 		2 1.000 0.080 X 122083259 intergenic variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs35489971
rs35489971
CD300LF ; RAB37
2 1.000 0.040 17 74704804 missense variant A/G;T snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs7232
rs7232
MS4A6A
4 1.000 0.080 11 60173126 missense variant T/A snv 0.31 0.27 0.700 1.000 1 2013 2013
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs7935829
rs7935829
MS4A6A
3 1.000 0.080 11 60175342 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11102001
rs11102001
GSTM5 ; EPS8L3
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs1892534
rs1892534
LEPR
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.700 1.000 1 2016 2016
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: 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: 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: rs7310615
rs7310615
SH2B3
12 0.882 12 111427245 intron variant C/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 2 2016 2017