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: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs3129871
rs3129871
HLA-DRA
5 0.827 0.320 6 32438565 upstream gene variant A/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs7185022
rs7185022
IRF8
1 1.000 0.120 16 85919323 intron variant A/C snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.880 1.000 9 2011 2019
dbSNP: rs2857151
rs2857151 		2 0.925 0.160 6 32795737 intergenic variant A/C;G snv 0.810 1.000 2 2012 2013
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2010 2010
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: 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: rs7305115
rs7305115
TPH2
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2010 2010
dbSNP: rs2618444
rs2618444 		2 0.925 0.160 8 11480861 intron variant 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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.820 1.000 3 2012 2014
dbSNP: rs1150793
rs1150793
MSH5 ; MSH5-SAPCD1
1 1.000 0.120 6 31749919 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs12900413
rs12900413
MESP2
2 0.925 0.120 15 89777808 intron variant A/G snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs12901071
rs12901071
SMAD3
3 0.882 0.160 15 67078051 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2019 2019
dbSNP: rs17416878
rs17416878 		1 1.000 0.120 1 16120485 downstream gene variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs1877672
rs1877672
LOC107986926
1 1.000 0.120 8 22705683 intron variant A/G snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs2256184
rs2256184
MICA
1 1.000 0.120 6 31412806 intron variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs2618457
rs2618457
BLK
1 1.000 0.120 8 11511668 intron variant A/G snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs2618479
rs2618479
BLK
2 0.925 0.280 8 11498312 intron variant A/G snv 0.84 0.700 1.000 1 2012 2012
dbSNP: rs2736345
rs2736345
BLK
3 0.882 0.280 8 11494976 intron variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs4523
rs4523
TBXA2R
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2018 2018