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: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.020 1.000 2 2019 2019
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2010 2013
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2006 2006
dbSNP: rs10680577
rs10680577
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2012 2012
dbSNP: rs11134527
rs11134527
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 < 0.001 1 2017 2017
dbSNP: rs1367492395
rs1367492395
2 0.925 0.160 17 7673589 missense variant G/T snv 0.010 1.000 1 2016 2016
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs246871
rs246871
ITK ; MED7
3 0.882 0.160 5 157158243 intron variant T/C snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2005 2005
dbSNP: rs3821204
rs3821204
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3859501
rs3859501
3 0.882 0.120 19 53788157 non coding transcript exon variant A/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs391957
rs391957
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs41386349
rs41386349
2 0.925 0.200 2 241851697 intron variant G/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs4149963
rs4149963
7 0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs56228771
rs56228771
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2014 2014
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs6710479
rs6710479
3 0.882 0.200 2 241855866 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs7421861
rs7421861
9 0.790 0.200 2 241853198 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs867384693
rs867384693
6 0.851 0.120 5 141625349 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs897092263
rs897092263
2 1.000 0.080 19 41009317 missense variant T/G snv 7.0E-06 0.010 1.000 1 2013 2013