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: rs7758128
rs7758128
TSBP1-AS1
3 0.882 0.040 6 32377506 intron variant C/A;T snv 4.2E-02 0.010 1.000 1 2011 2011
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 2019 2019
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs760870035
rs760870035
PSMB9 ; TAP1
2 0.925 0.040 6 32854240 missense variant C/G;T snv 1.4E-05; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs78645479
rs78645479
FOXD3 ; FOXD3-AS1
4 0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2013 2015
dbSNP: rs3213758
rs3213758
RPGRIP1L
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.020 1.000 2 2013 2015
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1298695421
rs1298695421
HP ; TXNL4B
2 0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs613791
rs613791
CXCR5
2 0.925 0.040 11 118893342 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2015 2015
dbSNP: rs8192917
rs8192917
GZMB ; LOC107984667
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.010 1.000 1 2018 2018
dbSNP: rs887303970
rs887303970
SOD3
10 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.020 1.000 2 2013 2017
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.020 1.000 2 2011 2012
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016