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: rs2075876
rs2075876
2 0.925 0.120 21 44289270 non coding transcript exon variant G/A snv 0.19 0.860 0.833 6 2011 2019
dbSNP: rs10919563
rs10919563
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.740 1.000 5 2010 2016
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: rs9268384
rs9268384
2 1.000 0.120 6 32368809 missense variant A/G snv 0.41 0.33 0.700 1.000 4 2007 2011
dbSNP: rs1033500
rs1033500
2 1.000 0.120 6 32339605 missense variant G/A snv 0.40 0.33 0.700 1.000 3 2007 2011
dbSNP: rs11089637
rs11089637
2 1.000 0.120 22 21624807 downstream gene variant T/C snv 0.28 0.800 1.000 3 2014 2019
dbSNP: rs13031237
rs13031237
REL
3 1.000 0.120 2 60908994 intron variant G/T snv 0.25 0.810 1.000 3 2009 2012
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: rs1748033
rs1748033
2 0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06 0.030 1.000 3 2014 2018
dbSNP: rs1953126
rs1953126
3 1.000 0.120 9 120878222 intron variant T/C snv 0.68 0.710 1.000 3 2007 2009
dbSNP: rs2071295
rs2071295
2 0.925 0.120 6 32070923 intron variant C/T snv 0.25 0.700 1.000 3 2007 2011
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: rs2239689
rs2239689
2 0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25 0.700 1.000 3 2007 2011
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