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: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2018 2018
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2004 2004
dbSNP: rs1477353313
rs1477353313
ACR
2 0.925 0.120 22 50744085 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs17197936
rs17197936 		3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs204991
rs204991
GPSM3
3 0.882 0.200 6 32193589 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3024498
rs3024498
IL10
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs73115010
rs73115010
CD40
1 1.000 0.040 20 46124597 intron variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2007 2007
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 1.000 14 1999 2019
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs741761
rs741761
SEMA7A ; MIR6881
3 0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10911363
rs10911363
NCF2 ; SMG7
2 0.925 0.120 1 183580622 intron variant G/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1385889785
rs1385889785
FCRL3
2 1.000 0.040 1 157695436 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.030 1.000 3 2012 2020
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.080 0.875 8 2002 2019
dbSNP: rs204989
rs204989
GPSM3
2 0.925 0.120 6 32194075 intron variant G/A snv 0.21 0.020 1.000 2 2016 2016
dbSNP: rs11168268
rs11168268
VDR
2 0.925 0.120 12 47858029 intron variant G/A snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2011 2011