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: rs8190315
rs8190315
BID
5 0.851 0.240 22 17743998 missense variant T/C snv 2.4E-02 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs5743312
rs5743312
9 0.827 0.160 4 186079102 intron variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2014 2014
dbSNP: rs6553010
rs6553010
7 0.851 0.240 4 186535189 intron variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs13140012
rs13140012
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs748500299
rs748500299
8 0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2015 2015
dbSNP: rs79767424
rs79767424
7 0.827 0.080 5 19108581 intron variant G/T snv 4.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs13010627
rs13010627
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1045487
rs1045487
2 1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6691378
rs6691378
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1380576
rs1380576
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs11801299
rs11801299
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2008 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2008 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs828907
rs828907
6 0.827 0.160 2 216108009 intron variant G/T snv 0.37 0.010 1.000 1 2009 2009