Source: ALL
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: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1057518581
rs1057518581
1 1.000 0.080 8 104014574 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1059288
rs1059288
3 0.882 0.320 6 33299895 3 prime UTR variant A/G snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1063355
rs1063355
5 0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs10746463
rs10746463
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10759931
rs10759931
9 0.790 0.360 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10766197
rs10766197
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1077861
rs1077861
1 1.000 0.080 16 50725636 intron variant A/T snv 0.51 0.010 1.000 1 2005 2005
dbSNP: rs10789166
rs10789166
1 1.000 0.080 1 64847130 intron variant A/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs10830196
rs10830196
1 1.000 0.080 10 127925448 intron variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs10924993
rs10924993
2 0.925 0.080 1 236296485 intergenic variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs10983755
rs10983755
7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs11030100
rs11030100
2 1.000 0.080 11 27656039 3 prime UTR variant G/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11074938
rs11074938
2 0.925 0.240 16 10912686 intron variant A/G snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs11079657
rs11079657
1 1.000 0.080 17 66435948 intron variant A/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs11102930
rs11102930
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs11225138
rs11225138
2 0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1124
rs1124
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2015 2015