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: rs3788862
rs3788862
1 1.000 0.040 X 43658116 intron variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs142723316
rs142723316
1 1.000 0.040 1 36086984 missense variant C/G;T snv 4.0E-06; 7.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs371195126
rs371195126
3 0.882 0.040 16 4783690 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs140210148
rs140210148
2 0.925 0.040 6 36012301 missense variant C/T snv 3.1E-04 3.0E-04 0.010 1.000 1 2013 2013
dbSNP: rs193143625
rs193143625
1 1.000 0.040 5 180316819 missense variant C/T snv 5.3E-04 4.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs3216733
rs3216733
3 0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2018 2018
dbSNP: rs147894843
rs147894843
2 0.925 0.040 20 45208496 missense variant G/A snv 1.0E-04 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs1893316
rs1893316
1 1.000 0.040 11 66026326 synonymous variant G/A snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs199696526
rs199696526
3 0.882 0.040 16 4786006 missense variant G/A snv 1.2E-04 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs215702
rs215702
3 0.925 0.040 7 32360046 intron variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2018 2018
dbSNP: rs116893490
rs116893490
1 1.000 0.040 1 36086835 missense variant G/A;T snv 4.3E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs779944215
rs779944215
2 0.925 0.040 1 167880125 frameshift variant GT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs1042064
rs1042064
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012