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: 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: 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: rs2724384
rs2724384
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs273259
rs273259
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
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
dbSNP: rs689470
rs689470
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
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: 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: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs121917748
rs121917748
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918631
rs121918631
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs146572471
rs146572471
1 1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 0.010 1.000 1 2015 2015
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: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
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: 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