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: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.090 0.889 9 2009 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 9 2009 2017
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs3821236
rs3821236
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs11893432
rs11893432
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.700 1.000 2 2014 2018
dbSNP: rs12039904
rs12039904
1 1.000 0.040 1 173243134 intergenic variant C/T snv 0.19 0.020 1.000 2 2011 2012
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs13239597
rs13239597
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs3790566
rs3790566
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs10178332
rs10178332
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2016 2016