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: rs4648308
rs4648308
5 0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs4658966
rs4658966
3 0.925 0.080 1 231942868 intron variant T/C snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs57875989
rs57875989
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs636832
rs636832
8 0.790 0.400 1 35897874 intron variant G/A snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs6704393
rs6704393
3 0.925 0.080 1 162182266 intron variant C/A;T snv 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 0.020 1.000 2 2016 2019
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs1364647619
rs1364647619
3 0.925 0.080 2 25161334 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2300478
rs2300478
6 0.851 0.120 2 66554321 intron variant T/G snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs4672619
rs4672619
4 0.882 0.160 2 211592470 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.090 0.889 9 2014 2019
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2012 2018
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139832701
rs139832701
3 0.925 0.080 3 8773124 intron variant T/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2133450
rs2133450
3 0.925 0.080 3 7294765 intron variant A/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs496250
rs496250
5 0.851 0.080 3 180909515 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017