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: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.967 30 2007 2017
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.890 1.000 13 2008 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.870 1.000 13 2009 2019
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.880 1.000 12 2009 2019
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.090 1.000 9 2007 2017
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.080 0.875 8 2010 2019
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.770 1.000 8 2011 2019
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.830 1.000 7 2008 2016
dbSNP: rs2431697
rs2431697
10 0.776 0.240 5 160452971 intron variant T/C snv 0.44 0.840 1.000 7 2008 2017
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.830 1.000 6 2009 2017
dbSNP: rs1234315
rs1234315
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.060 1.000 6 2011 2019
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.060 1.000 6 2006 2017
dbSNP: rs4917014
rs4917014
8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.830 1.000 6 2009 2017
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.850 1.000 6 2008 2017
dbSNP: rs729302
rs729302
6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.820 1.000 6 2008 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.740 1.000 6 2008 2017
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.730 1.000 6 2009 2018
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.840 1.000 6 2009 2019
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.050 1.000 5 2008 2013
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.710 1.000 5 2015 2018
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.050 0.400 5 2012 2016
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.800 1.000 5 2009 2016
dbSNP: rs4963128
rs4963128
3 0.882 0.120 11 589564 intron variant T/C snv 0.64 0.830 1.000 5 2008 2012
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.050 0.600 5 2007 2017