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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2012 2018
dbSNP: rs4282438
rs4282438
COL11A2P1
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.030 1.000 3 2014 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2013 2018
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2009 2012
dbSNP: rs3024971
rs3024971
STAT6
7 0.827 0.200 12 57099944 intron variant T/G snv 7.8E-02 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs2516448
rs2516448 		10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.020 1.000 2 2014 2016
dbSNP: rs3218896
rs3218896
IL1R2
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.090 0.778 9 2005 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.030 1.000 3 2015 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs9272143
rs9272143
HLA-DQA1
3 0.882 0.080 6 32633026 intron variant T/C snv 0.49 0.020 1.000 2 2014 2014
dbSNP: rs1126497
rs1126497
EPCAM
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2012 2012
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1195571
rs1195571 		3 0.882 0.080 12 130739483 intergenic variant T/C snv 0.97 0.010 < 0.001 1 2019 2019
dbSNP: rs1292037
rs1292037
VMP1 ; MIR21
6 0.827 0.200 17 59841547 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1799964
rs1799964
LTA ; TNF ; LOC100287329
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2017 2017
dbSNP: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
5 0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74 0.010 1.000 1 2012 2012
dbSNP: rs2290907
rs2290907
TNRC6C
4 0.882 0.080 17 78097596 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs300574
rs300574
SPRY1
3 0.882 0.080 4 123402583 3 prime UTR variant T/C snv 0.58 0.54 0.010 1.000 1 2016 2016
dbSNP: rs3094
rs3094
RNASE4
3 0.882 0.080 14 20699896 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs4604006
rs4604006
VEGFC ; LOC105377555
3 0.882 0.080 4 176687621 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019