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: rs41274221
rs41274221
MCM7 ; MIR106B ; MIR25 ; MIR93
6 0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1799768
rs1799768
SERPINE1
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs773829498
rs773829498
SERPINE1
3 0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs497116
rs497116
CASP12
2 0.925 0.080 11 104892390 stop lost A/G snv 4.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs9770242
rs9770242
NAMPT
5 0.851 0.240 7 106285885 5 prime UTR variant C/A snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs510432
rs510432
ATG5
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs506027
rs506027
ATG5
2 0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
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 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2014 2016
dbSNP: rs17602729
rs17602729
AMPD1
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs11216153
rs11216153
APOA1-AS
2 0.925 0.080 11 116834384 upstream gene variant G/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.889 9 2002 2016
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.070 0.857 7 2002 2016
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs368287711
rs368287711
IL10RA
4 0.851 0.120 11 117989554 missense variant C/A;T snv 2.0E-05; 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1419560997
rs1419560997
IL10RA
2 0.925 0.080 11 117993410 splice region variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs41279766
rs41279766
MARCO
2 0.925 0.080 2 118970217 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs2715267
rs2715267
ILDR1
2 0.925 0.080 3 122052011 upstream gene variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2332096
rs2332096
CD86
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015