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: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.080 1.000 8 2013 2019
dbSNP: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.840 1.000 7 2008 2018
dbSNP: rs872071
rs872071
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.840 1.000 7 2008 2014
dbSNP: rs13397985
rs13397985
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs7176508
rs7176508
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.830 1.000 6 2008 2014
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.050 1.000 5 2015 2018
dbSNP: rs17483466
rs17483466
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2007 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2007 2019
dbSNP: rs11083846
rs11083846
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.830 1.000 3 2008 2010
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2019
dbSNP: rs210142
rs210142
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs305061
rs305061
4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.820 1.000 3 2010 2012
dbSNP: rs35923643
rs35923643
3 0.925 0.120 11 123484683 intron variant A/G snv 0.15 0.710 1.000 3 2016 2018
dbSNP: rs757978
rs757978
4 0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02 0.820 1.000 3 2010 2013
dbSNP: rs8024033
rs8024033
2 0.925 0.120 15 40111456 upstream gene variant C/G snv 0.50 0.800 1.000 3 2013 2017
dbSNP: rs9880772
rs9880772
5 0.827 0.240 3 27736288 intergenic variant G/A snv 0.59 0.700 1.000 3 2016 2017
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.800 1.000 2 2013 2019
dbSNP: rs1036935
rs1036935
2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs1044873
rs1044873
2 0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40 0.810 1.000 2 2013 2014
dbSNP: rs1057519831
rs1057519831
3 1.000 0.120 16 81912655 missense variant C/T snv 0.710 1.000 2 2014 2015
dbSNP: rs1057519832
rs1057519832
1 1.000 0.120 16 81928578 missense variant A/C;G;T snv 0.710 1.000 2 2014 2016