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: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2012 2012
dbSNP: rs10754339
rs10754339
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs10814325
rs10814325
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs10877887
rs10877887
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11064
rs11064
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 < 0.001 1 2016 2016
dbSNP: rs11099592
rs11099592
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2012 2012
dbSNP: rs11125
rs11125
5 0.851 0.120 14 55145121 missense variant A/T snv 6.5E-02 5.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1130233
rs1130233
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1143630
rs1143630
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs11539752
rs11539752
6 0.882 0.120 14 24632383 missense variant G/C snv 0.21 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs11581557
rs11581557
1 1.000 0.080 1 39862786 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11600655
rs11600655
2 0.925 0.120 11 63606853 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs11671784
rs11671784
9 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs11730582
rs11730582
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1187825488
rs1187825488
1 1.000 0.080 3 75737670 frameshift variant TT/- del 7.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs11886868
rs11886868
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2017 2017