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: rs10898909
rs10898909
2 0.925 0.120 11 73241451 non coding transcript exon variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs11137351
rs11137351
1 1.000 0.120 9 138045676 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1131882
rs1131882
3 0.882 0.200 19 3595925 missense variant G/A snv 0.22 0.15 0.010 1.000 1 2015 2015
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 2012 2012
dbSNP: rs11833579
rs11833579
6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1207570776
rs1207570776
1 1.000 0.120 2 182757711 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121918474
rs121918474
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs12218
rs12218
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs12342
rs12342
4 0.851 0.240 12 1787714 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12659
rs12659
2 0.925 0.120 21 45531642 synonymous variant A/G snv 0.58 0.57 0.010 1.000 1 2015 2015
dbSNP: rs13412
rs13412
1 1.000 0.120 17 41811190 missense variant T/A;C snv 0.38 0.34 0.010 1.000 1 2019 2019
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1537378
rs1537378
4 0.882 0.160 9 22061615 intron variant A/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1801273
rs1801273
3 0.925 0.200 2 88126256 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2015 2015