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: rs3771171
rs3771171
IL18R1
2 1.000 0.080 2 102369490 intron variant T/C snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs3771150
rs3771150
IL18RAP
1 1.000 0.080 2 102444391 intron variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs2498804
rs2498804
SIVA1 ; LOC102723342 ; LOC107987209
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2012 2012
dbSNP: rs3803300
rs3803300
ZBTB42
6 0.827 0.120 14 104803442 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs778293
rs778293 		7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs3793892
rs3793892
DUSP5
1 1.000 0.080 10 110505377 intron variant G/T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1042606
rs1042606
DUSP5
1 1.000 0.080 10 110510917 3 prime UTR variant A/C snv 0.64 0.010 1.000 1 2020 2020
dbSNP: rs1440306
rs1440306
LOC107986306
1 1.000 0.080 4 116954105 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
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 2012 2012
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 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 < 0.001 2 2011 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2011 2015
dbSNP: rs602201
rs602201
GNAL ; MPPE1
2 0.925 0.120 18 11882269 3 prime UTR variant T/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs593713
rs593713
MPPE1
2 0.925 0.120 18 11887658 intron variant G/A snv 0.42 0.010 1.000 1 2010 2010
dbSNP: rs3974590
rs3974590
MPPE1
2 0.925 0.120 18 11892846 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs3786285
rs3786285
IMPA2
2 0.925 0.120 18 12008848 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs613993
rs613993
IMPA2
2 0.925 0.120 18 12028581 non coding transcript exon variant A/G snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2009 2013
dbSNP: rs11199993
rs11199993
FGFR2
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs78089757
rs78089757 		3 0.882 0.120 10 125424260 intergenic variant G/A snv 9.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs2781666
rs2781666
ARG1
8 0.790 0.280 6 131572419 intron variant G/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs28364997
rs28364997
SLC6A3
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs6413429
rs6413429
SLC6A3
2 0.925 0.120 5 1446912 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs556493
rs556493
STXBP5
1 1.000 0.080 6 147228161 intron variant A/C;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2015 2015