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: rs1010273
rs1010273
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1046282
rs1046282
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10485138
rs10485138
1 1.000 0.080 6 100690714 intron variant C/T snv 2.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1049334
rs1049334
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1076064
rs1076064
4 0.851 0.160 5 149732603 intron variant A/G snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10912564
rs10912564
1 1.000 0.080 1 173201479 intron variant C/T snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs10918706
rs10918706
2 0.925 0.200 1 167496884 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs10932029
rs10932029
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11003123
rs11003123
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs11134527
rs11134527
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs112120857
rs112120857
1 1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
dbSNP: rs11355458
rs11355458
1 1.000 0.080 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2010 2010
dbSNP: rs1140763
rs1140763
1 1.000 0.080 9 125235313 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs114465251
rs114465251
2 0.925 0.120 6 29830642 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11465817
rs11465817
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11466004
rs11466004
1 1.000 0.080 8 74029040 missense variant C/G;T snv 1.3E-02 0.010 1.000 1 2019 2019