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: rs1039197
rs1039197
1 1.000 0.040 10 4617005 intergenic variant A/C snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs10405382
rs10405382
2 1.000 0.040 19 32405810 5 prime UTR variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10405744
rs10405744
4 0.851 0.040 19 19948684 intron variant G/A snv 9.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1042779
rs1042779
4 0.882 0.040 3 52786995 missense variant A/G snv 0.40 0.42 0.700 1.000 1 2013 2013
dbSNP: rs10429537
rs10429537
2 1.000 0.040 9 23346844 intron variant C/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10447426
rs10447426
DDO
1 1.000 0.040 6 110400547 intron variant G/A snv 3.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1045430
rs1045430
1 1.000 0.040 14 74663532 3 prime UTR variant T/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs10457592
rs10457592
1 1.000 0.040 6 99104094 intergenic variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10458787
rs10458787
4 1.000 0.040 10 4613373 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10462028
rs10462028
4 0.882 0.120 4 55432133 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1048220
rs1048220
1 1.000 0.040 11 27658191 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10484358
rs10484358
1 1.000 0.040 6 16255812 intron variant G/T snv 7.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs10485715
rs10485715
2 0.925 0.040 20 7279278 intergenic variant T/C snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.040 1.000 4 2008 2013
dbSNP: rs10494251
rs10494251
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10494994
rs10494994
1 1.000 0.040 1 215188864 intron variant G/A snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10501696
rs10501696
1 1.000 0.040 11 89014994 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs10503253
rs10503253
5 0.851 0.040 8 4323322 intron variant C/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs10508287
rs10508287
1 1.000 0.040 10 4658776 intron variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs10508288
rs10508288
1 1.000 0.040 10 4738837 intergenic variant A/G snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs10508290
rs10508290
1 1.000 0.040 10 4763511 intron variant G/A snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.710 1.000 2 2016 2018