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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10304
rs10304
2 0.925 0.120 22 31104550 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1044006
rs1044006
1 1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86 0.010 1.000 1 2016 2016
dbSNP: rs1044009
rs1044009
1 1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1050283
rs1050283
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 < 0.001 1 2015 2015
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057335
rs1057335
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs10780199
rs10780199
1 1.000 0.120 9 138058845 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs10846744
rs10846744
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
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