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: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397517792
rs397517792
1 1.000 0.120 2 178764802 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs756952113
rs756952113
1 1.000 0.120 2 221482561 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs11543198
rs11543198
3 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 0.710 1.000 1 2015 2015
dbSNP: rs2042329
rs2042329
3 0.882 0.120 5 64771925 intron variant T/C;G snv 0.710 1.000 1 2016 2016
dbSNP: rs62185668
rs62185668
3 0.925 0.120 20 10981287 intron variant C/A snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs10094872
rs10094872
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913480
rs121913480
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913484
rs121913484
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs12216499
rs12216499
1 1.000 0.120 6 158947492 intergenic variant G/T snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs1258767
rs1258767
1 1.000 0.120 15 32834253 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs180940944
rs180940944
1 1.000 0.120 13 35375956 intron variant C/T snv 2.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs4510656
rs4510656
2 0.925 0.120 6 20766466 intron variant C/A snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs5003154
rs5003154
2 0.925 0.120 8 81074718 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs6104690
rs6104690
2 0.925 0.120 20 11007451 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7238033
rs7238033
2 0.925 0.120 18 45737001 intron variant T/C snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs7747724
rs7747724
2 0.925 0.120 6 20751084 intron variant T/C snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs907611
rs907611
4 0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs10234749
rs10234749
3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1041983
rs1041983
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1046428
rs1046428
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2014 2014