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: rs13069567
rs13069567
1 3 169042362 downstream gene variant A/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs13277237
rs13277237
4 8 129592317 intron variant G/A snv 0.53 0.700 1.000 1 2015 2015
dbSNP: rs1343126
rs1343126
1 1 113586470 intron variant A/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1388585
rs1388585
1 12 40137889 downstream gene variant G/A snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs1420098
rs1420098
1 2 102367819 splice region variant T/C snv 0.35 0.33 0.700 1.000 1 2015 2015
dbSNP: rs1426809883
rs1426809883
1 19 10284797 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs149169037
rs149169037
1 7 20537675 intergenic variant G/A snv 5.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1505992
rs1505992
2 5 40498475 intron variant A/T snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs1648234
rs1648234
1 11 19308167 intron variant G/A snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs16953946
rs16953946
1 16 80751551 intron variant T/A;C snv 0.710 1.000 1 2016 2016
dbSNP: rs17000400
rs17000400
1 4 75251521 regulatory region variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs17057051
rs17057051
1 8 27370037 intron variant A/G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs17207042
rs17207042
1 18 69870115 intron variant T/C snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs17800987
rs17800987
1 5 150943866 non coding transcript exon variant A/G snv 0.14 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1799852
rs1799852
TF
5 3 133756878 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2016 2016
dbSNP: rs200829864
rs200829864
1 9 117704494 missense variant G/A;T snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs201507031
rs201507031
1 12 52897488 missense variant C/A snv 1.1E-04 1.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs2034498
rs2034498
1 4 128971750 non coding transcript exon variant C/A;G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2153283
rs2153283
1 10 58212538 intron variant C/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs2179070
rs2179070
1 6 111564549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2231884
rs2231884
1 11 65889093 upstream gene variant C/T snv 0.16 0.800 1.000 1 2012 2012
dbSNP: rs2274351
rs2274351
1 10 102504350 intron variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs2279990
rs2279990
1 2 28413873 3 prime UTR variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs2297559
rs2297559
1 1 160884736 intron variant G/A snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs2328546
rs2328546
1 6 20657114 intron variant T/C snv 0.81 0.700 1.000 1 2015 2015