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: rs12144309
rs12144309
1 1 113772871 intron variant C/T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs12566340
rs12566340
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2003 2003
dbSNP: rs3789607
rs3789607
1 1 113823812 intron variant T/C snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs3811021
rs3811021
2 1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs773862672
rs773862672
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs104893626
rs104893626
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs11886868
rs11886868
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs149627368
rs149627368
REL
1 2 60922344 missense variant T/C snv 1.5E-04 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs4671393
rs4671393
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.070 1.000 7 2013 2018
dbSNP: rs764643047
rs764643047
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs355689
rs355689
2 1.000 0.040 4 77586643 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs6857600
rs6857600
3 0.925 0.120 4 88144923 intron variant C/T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs2069812
rs2069812
IL5
5 0.851 0.240 5 132544224 intron variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2012 2013
dbSNP: rs1799725
rs1799725
1 6 159692840 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2013 2013