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: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs10866845
rs10866845
EBF2 ; LOC102723395
1 1.000 0.120 8 25850751 synonymous variant T/C snv 0.42 0.49 0.010 1.000 1 2018 2018
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: 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: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 < 0.001 1 2019 2019
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: rs12722477
rs12722477
HLA-G
1 1.000 0.120 6 29828599 missense variant C/A snv 0.14 0.14 0.010 1.000 1 2008 2008
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: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1438386
rs1438386
SMAD3
1 1.000 0.120 15 67115561 intron variant G/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs1561876
rs1561876
STIM1
2 0.925 0.160 11 4092165 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs16849083
rs16849083
RBP2 ; LOC100507291
1 1.000 0.120 3 139465437 intron variant C/T snv 0.12 0.010 1.000 1 2011 2011
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: rs17280682
rs17280682
NLRP14
1 1.000 0.120 11 7070338 missense variant C/T snv 0.15 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1861493
rs1861493
IFNG ; IFNG-AS1
4 0.851 0.280 12 68157416 intron variant G/A snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs1873668
rs1873668
MRPS22
1 1.000 0.120 3 139326219 intron variant T/G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2006 2006
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: rs2070676
rs2070676
CYP2E1
5 0.827 0.320 10 133537633 non coding transcript exon variant G/C snv 0.73 0.010 1.000 1 2017 2017