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: rs25648
rs25648
VEGFA
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.010 1.000 1 2006 2006
dbSNP: rs2618444
rs2618444 		2 0.925 0.160 8 11480861 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2618455
rs2618455
BLK
1 1.000 0.120 8 11513369 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2618458
rs2618458
BLK
1 1.000 0.120 8 11511559 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2720378
rs2720378
CASP3
1 1.000 0.120 4 184646959 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2736332
rs2736332 		2 0.925 0.160 8 11482456 upstream gene variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736335
rs2736335 		1 1.000 0.120 8 11483978 upstream gene variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736336
rs2736336 		2 0.925 0.160 8 11484361 upstream gene variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736338
rs2736338 		1 1.000 0.120 8 11484374 upstream gene variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736344
rs2736344
BLK
1 1.000 0.120 8 11493169 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2848716
rs2848716 		2 0.925 0.200 6 31420190 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs28662
rs28662
SAMD9L
1 1.000 0.120 7 93145706 5 prime UTR variant T/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs3118470
rs3118470
IL2RA
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3129860
rs3129860 		2 0.925 0.240 6 32433302 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3132464
rs3132464
MICB
1 1.000 0.120 6 31509684 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3206634
rs3206634
SMAD5
1 1.000 0.120 5 136180515 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs341058
rs341058
PDE2A
1 1.000 0.120 11 72674681 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs35393613
rs35393613 		1 1.000 0.120 8 11480957 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs56083757
rs56083757
TLR1 ; TLR6
1 1.000 0.120 4 38844724 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs569648905
rs569648905
BLK
1 1.000 0.120 8 11511223 intron variant C/- del 0.700 1.000 1 2012 2012
dbSNP: rs6069865
rs6069865 		1 1.000 0.120 20 56757888 intergenic variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2006 2006