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: rs28701841
rs28701841
5 0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12369214
rs12369214
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs3776414
rs3776414
DAP
6 0.827 0.120 5 10689450 intron variant T/G snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs2930047
rs2930047
DAP
3 0.925 0.040 5 10695414 intron variant T/C snv 0.49 0.700 1.000 2 2015 2017
dbSNP: rs7805114
rs7805114
5 0.827 0.120 7 107809588 downstream gene variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6466198
rs6466198
5 0.827 0.120 7 107839681 regulatory region variant A/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs147629807
rs147629807
1 1.000 0.040 5 108553338 intergenic variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs147856773
rs147856773
1 1.000 0.040 6 108666024 intron variant -/GGT delins 0.14 0.700 1.000 1 2017 2017
dbSNP: rs7115956
rs7115956
5 0.827 0.120 11 110085620 intron variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177
6 0.807 0.120 11 110091706 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs11195128
rs11195128
2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.810 1.000 2 2014 2017
dbSNP: rs8061882
rs8061882
5 0.827 0.120 16 11067551 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
73 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs9828223
rs9828223
1 1.000 0.040 3 111506078 intron variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs3851228
rs3851228
3 0.925 0.040 6 111526988 intron variant A/T snv 9.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs653178
rs653178
36 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2015 2017
dbSNP: rs488200
rs488200
1 0.925 0.120 1 111720204 intron variant A/T snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs11649613
rs11649613
5 0.827 0.120 16 11225500 downstream gene variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs4807569
rs4807569
2 0.925 0.120 19 1123379 intron variant A/C snv 0.25 0.710 1.000 1 2008 2010
dbSNP: rs2024092
rs2024092
6 0.827 0.120 19 1124032 intron variant G/A snv 0.24 0.26 0.800 1.000 5 2008 2017
dbSNP: rs740495
rs740495
1 1.000 0.040 19 1124836 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs4780355
rs4780355
3 0.882 0.120 16 11254001 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs367569
rs367569
6 0.807 0.120 16 11271643 intron variant C/T snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs529866
rs529866
2 1.000 0.040 16 11279463 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017