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: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1016343
rs1016343
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2019 2019
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: rs10420252
rs10420252
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10491121
rs10491121
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
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