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: rs371194629
rs371194629
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs35068180
rs35068180
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2010 2010
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.040 1.000 4 2013 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2013 2019
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2012 2014
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1336795098
rs1336795098
1 9 131127544 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs3136558
rs3136558
4 1.000 2 112833698 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs397516808
rs397516808
1 12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs17886084
rs17886084
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs4273729
rs4273729
5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs139226823
rs139226823
1 X 71616597 missense variant C/G;T snv 5.5E-06; 5.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2010 2017
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 2017 2017
dbSNP: rs1480480967
rs1480480967
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2011 2011