Source: CURATED ×
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: rs314313
rs314313
2 1.000 0.040 7 100825743 intron variant T/A;C;G snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs503734
rs503734
2 1.000 0.040 3 101304904 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs13107612
rs13107612
5 0.827 0.120 4 101818823 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs13126505
rs13126505
3 1.000 0.040 4 101944147 intron variant G/A snv 4.1E-02 0.800 1.000 2 2012 2017
dbSNP: rs34592089
rs34592089
2 1.000 0.040 4 102005766 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4851529
rs4851529
5 0.827 0.120 2 102030838 downstream gene variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs871656
rs871656
5 0.827 0.120 2 102154822 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs13001325
rs13001325
3 1.000 0.040 2 102322576 intron variant C/T snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs12987977
rs12987977
5 0.827 0.120 2 102358876 intron variant T/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2058660
rs2058660
1 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.810 1.000 1 2010 2015
dbSNP: rs6708413
rs6708413
2 1.000 0.040 2 102446909 intron variant G/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs3774937
rs3774937
5 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs7705924
rs7705924
1 1.000 0.040 5 102611094 intron variant A/G snv 5.1E-02 0.800 1.000 1 2012 2012
dbSNP: rs74956615
rs74956615
6 0.807 0.160 19 10317045 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs35018800
rs35018800
5 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
7 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs11879191
rs11879191
2 1.000 0.040 19 10402235 intron variant G/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs62131887
rs62131887
14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs35074907
rs35074907
6 0.807 0.160 19 10489742 synonymous variant G/A snv 1.9E-02 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
5 0.827 0.120 5 10521556 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6568421
rs6568421
2 1.000 0.040 6 105987150 regulatory region variant A/G snv 0.23 0.800 1.000 1 2010 2010
dbSNP: rs7746082
rs7746082
5 0.851 0.160 6 105987394 regulatory region variant G/A;C snv 0.810 1.000 3 2008 2017
dbSNP: rs4946717
rs4946717
6 0.827 0.120 6 106026874 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016