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: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2012 2016
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: rs6993775
rs6993775
BLK
1 1.000 0.120 8 11512480 intron variant G/T snv 0.77 0.720 1.000 3 2012 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: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2006 2012
dbSNP: rs4813003
rs4813003 		3 0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19 0.810 1.000 2 2012 2015
dbSNP: rs10082659
rs10082659
LDLRAD3
1 1.000 0.120 11 36122428 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10100215
rs10100215
BLK
1 1.000 0.120 8 11504763 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs10127456
rs10127456
FHAD1 ; FHAD1-AS1
2 0.925 0.120 1 15327376 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs1113452
rs1113452
FSD2
1 1.000 0.120 15 82805465 intron variant G/A snv 3.5E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs11250141
rs11250141
BLK
1 1.000 0.120 8 11514632 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11340705
rs11340705
LINC00690
1 1.000 0.120 3 16526578 intron variant AA/-;A;AAA delins 0.010 1.000 1 2013 2013
dbSNP: rs113420705
rs113420705
CASP3 ; PRIMPOL
4 0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2019 2019
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: rs11734
rs11734
ZSCAN25
1 1.000 0.120 7 99632145 3 prime UTR variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11793049
rs11793049
ZNF618
2 0.925 0.120 9 114011589 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11990277
rs11990277
BLK
1 1.000 0.120 8 11514576 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs12068753
rs12068753 		2 1.000 0.120 1 159722747 intergenic variant T/A snv 0.15 0.710 1.000 1 2015 2015
dbSNP: rs12210919
rs12210919
MDGA1
2 0.925 0.120 6 37677736 intron variant T/C snv 6.8E-02 0.700 1.000 1 2016 2016
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: rs13256690
rs13256690 		1 1.000 0.120 8 11481059 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2012 2012