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: rs11209008
rs11209008
3 0.882 0.080 1 67157615 intron variant G/A;T snv 5.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1128334
rs1128334
5 0.851 0.160 11 128459064 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11428092
rs11428092
1 1.000 0.040 2 61301164 intron variant -/A delins 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs11547635
rs11547635
1 1.000 0.040 22 32857305 synonymous variant C/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs11557467
rs11557467
5 0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45 0.010 1.000 1 2013 2013
dbSNP: rs11578380
rs11578380
1 1.000 0.040 1 67295682 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11584383
rs11584383
5 0.827 0.200 1 200966738 downstream gene variant T/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1160489801
rs1160489801
1 1.000 0.040 2 112918672 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs12036228
rs12036228
1 1.000 0.040 1 157544301 missense variant C/T snv 0.19 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1217418
rs1217418
2 0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12218
rs12218
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1225955
rs1225955
1 1.000 0.040 6 7900476 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs12504282
rs12504282
2 1.000 0.040 4 80005847 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12574073
rs12574073
2 0.925 0.120 11 128449583 regulatory region variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs12609318
rs12609318
1 1.000 0.040 19 6663905 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs13167972
rs13167972
1 1.000 0.040 5 96761124 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs13202464
rs13202464
5 0.925 0.040 6 31376806 upstream gene variant A/G snv 6.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs13209404
rs13209404
1 1.000 0.040 6 7909734 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018