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: rs17860508
rs17860508
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2019 2019
dbSNP: rs71559680
rs71559680
6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 1 2016 2016
dbSNP: rs27037
rs27037
1 1.000 0.040 5 96758990 intron variant T/G snv 0.72 0.760 1.000 7 2010 2018
dbSNP: rs27980
rs27980
1 1.000 0.040 5 96762191 3 prime UTR variant T/G snv 0.36 0.030 0.667 3 2016 2018
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2012 2018
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.020 1.000 2 2012 2018
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2016 2019
dbSNP: rs1004189
rs1004189
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs111305875
rs111305875
5 0.827 0.120 6 167098098 intron variant T/G snv 3.0E-02 0.700 1.000 1 2016 2016
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: rs1569414
rs1569414
6 0.807 0.160 22 45331684 intron variant T/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1729674
rs1729674
1 1.000 0.040 2 61162602 missense variant T/G snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2234649
rs2234649
3 0.925 0.120 12 6342197 upstream gene variant T/G snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs34779708
rs34779708
6 0.827 0.120 10 35177257 intron variant T/G snv 0.33 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: rs3812162
rs3812162
2 0.925 0.120 6 7911469 intron variant T/G snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs4243971
rs4243971
6 0.827 0.120 20 32261714 intergenic variant T/G snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs6425143
rs6425143
5 0.827 0.120 1 172875212 intron variant T/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2013 2013
dbSNP: rs2310173
rs2310173
2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.810 1.000 2 2010 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1333062
rs1333062
6 0.807 0.200 1 160876494 downstream gene variant T/C;G snv 0.700 1.000 1 2016 2016