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: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.030 1.000 3 2010 2014
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2018 2018
dbSNP: rs11105468
rs11105468
1 1.000 0.080 12 89935056 intron variant T/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs114444506
rs114444506
1 1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs121909323
rs121909323
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121909673
rs121909673
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121918631
rs121918631
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1318653
rs1318653
1 1.000 0.080 1 207841577 intron variant T/C snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs13306038
rs13306038
1 1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs16850331
rs16850331
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs201931599
rs201931599
1 1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs210987
rs210987
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs211014
rs211014
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs267606837
rs267606837
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2724384
rs2724384
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs3769955
rs3769955
1 1.000 0.080 2 165378122 intron variant C/T snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs3943809
rs3943809
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs4648306
rs4648306
1 1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs4648308
rs4648308
5 0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs689465
rs689465
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2017 2017