Source: BEFREE ×
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: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.020 1.000 2 2015 2016
dbSNP: rs1463502008
rs1463502008
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
2 0.925 0.040 12 10930275 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2856838
rs2856838
IL1A
4 0.851 0.200 2 112782395 intron variant G/A snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs549858786
rs549858786
IL1B
10 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2007 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs1801133
rs1801133
MTHFR
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2230345
rs2230345
GRK5
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2275036
rs2275036
GRK5
1 1.000 0.040 10 119380809 splice region variant C/T snv 0.15 0.14 0.010 1.000 1 2015 2015
dbSNP: rs4752307
rs4752307
GRK5
1 1.000 0.040 10 119422897 intron variant G/A snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs11198918
rs11198918
GRK5
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs778499956
rs778499956
PSMD9
1 1.000 0.040 12 121899786 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.050 1.000 5 2009 2017
dbSNP: rs3750920
rs3750920
TOLLIP
6 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 0.010 1.000 1 2017 2017
dbSNP: rs40401
rs40401
IL3 ; LOC105379174
8 0.776 0.440 5 132060785 missense variant C/T snv 0.29 0.33 0.010 1.000 1 2011 2011
dbSNP: rs2706384
rs2706384
IRF1
1 1.000 0.040 5 132491188 intron variant G/T snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1126535
rs1126535
CD40LG
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1801704
rs1801704
ADRB2
3 0.882 0.200 5 148826812 5 prime UTR variant C/T snv 0.68 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs915942
rs915942
RPL10 ; SNORA70
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.020 1.000 2 2014 2015
dbSNP: rs61042368
rs61042368 		2 0.925 0.040 X 154527122 downstream gene variant G/A snv 3.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010