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: rs2240340
rs2240340
1 1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54 0.770 1.000 7 2008 2017
dbSNP: rs13330176
rs13330176
1 1.000 0.120 16 85985481 upstream gene variant T/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs1571878
rs1571878
1 1.000 0.120 6 167127354 intron variant C/T snv 0.61 0.800 1.000 4 2012 2019
dbSNP: rs2561477
rs2561477
1 1.000 0.120 5 103273223 intron variant G/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs34695944
rs34695944
REL
1 1.000 0.120 2 60897715 intron variant T/C snv 0.26 0.800 1.000 4 2012 2019
dbSNP: rs3738919
rs3738919
1 1.000 0.120 2 186656533 intron variant C/A;G snv 0.28 0.040 0.750 4 2007 2014
dbSNP: rs8026898
rs8026898
1 1.000 0.120 15 69699078 non coding transcript exon variant G/A snv 0.35 0.800 1.000 4 2012 2019
dbSNP: rs9268368
rs9268368
1 1.000 0.120 6 32366178 missense variant T/C snv 0.42 0.33 0.700 1.000 4 2007 2011
dbSNP: rs13207033
rs13207033
1 1.000 0.120 6 137644281 intergenic variant G/A snv 0.24 0.030 0.667 3 2009 2016
dbSNP: rs17337023
rs17337023
1 1.000 0.120 7 55171181 synonymous variant T/A;G snv 0.030 1.000 3 2012 2017
dbSNP: rs2233434
rs2233434
1 1.000 0.120 6 44265183 missense variant A/G snv 4.9E-02 5.1E-02 0.810 1.000 3 2012 2016
dbSNP: rs2240335
rs2240335
1 1.000 0.120 1 17348042 synonymous variant C/A snv 0.39 0.37 0.810 1.000 3 2011 2019
dbSNP: rs2269475
rs2269475
1 1.000 0.120 6 31616154 non coding transcript exon variant C/T snv 0.15 0.14 0.710 1.000 3 2007 2009
dbSNP: rs2281829
rs2281829
1 1.000 0.120 6 33707865 intron variant A/G snv 0.40 0.700 1.000 3 2007 2011
dbSNP: rs2301888
rs2301888
1 1.000 0.120 1 17346235 intron variant G/A snv 0.31 0.800 1.000 3 2014 2019
dbSNP: rs2524279
rs2524279
1 1.000 0.120 6 31425129 intron variant A/G snv 5.3E-02 0.700 1.000 3 2007 2011
dbSNP: rs2581
rs2581
1 1.000 0.120 6 33006624 3 prime UTR variant G/C;T snv 0.700 1.000 3 2007 2011
dbSNP: rs2671692
rs2671692
1 1.000 0.120 10 48889774 intron variant G/A snv 0.54 0.800 1.000 3 2014 2019
dbSNP: rs2734335
rs2734335
1 1.000 0.120 6 31926167 intron variant G/A snv 0.53 0.700 1.000 3 2007 2011
dbSNP: rs3130100
rs3130100
1 1.000 0.120 6 33315989 missense variant T/C snv 0.54 0.54 0.700 1.000 3 2007 2011
dbSNP: rs3130315
rs3130315
1 1.000 0.120 6 32252908 upstream gene variant G/A;T snv 0.700 1.000 3 2007 2011
dbSNP: rs381218
rs381218
1 1.000 0.120 6 33009643 upstream gene variant G/T snv 0.20 0.700 1.000 3 2007 2011
dbSNP: rs6933349
rs6933349
1 1.000 0.120 6 31034236 intron variant G/A snv 0.20 0.710 1.000 3 2007 2017
dbSNP: rs73013527
rs73013527
1 1.000 0.120 11 128627057 intron variant C/T snv 0.37 0.810 1.000 3 2014 2019
dbSNP: rs73081554
rs73081554
1 1.000 0.120 3 58317208 intron variant C/T snv 4.3E-02 0.800 1.000 3 2014 2019