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: rs10010131
rs10010131
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.070 1.000 7 2006 2020
dbSNP: rs290487
rs290487
10 0.776 0.280 10 113149972 intron variant C/T snv 0.16 0.010 1.000 1 2020 2020
dbSNP: rs8066560
rs8066560
2 0.925 0.040 17 17824729 intron variant A/G snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs750931344
rs750931344
1 1.000 0.040 12 46769424 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs2273773
rs2273773
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs9906827
rs9906827
2 0.925 0.120 17 80691605 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11202592
rs11202592
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs340874
rs340874
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2006 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2018
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs10515074
rs10515074
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs572115942
rs572115942
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2006 2011
dbSNP: rs164147
rs164147
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs561017686
rs561017686
4 0.882 0.120 2 181678138 missense variant G/A;C snv 8.0E-06; 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs7744
rs7744
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1320702652
rs1320702652
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs369841551
rs369841551
3 0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 1999 2017