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: rs80356618
rs80356618
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.810 1.000 14 2004 2017
dbSNP: rs80356624
rs80356624
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.810 1.000 14 2004 2017
dbSNP: rs193929337
rs193929337
6 0.827 0.160 11 17387937 missense variant T/C snv 0.810 1.000 13 2004 2017
dbSNP: rs80356611
rs80356611
10 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.810 1.000 13 2004 2017
dbSNP: rs80356617
rs80356617
3 0.882 0.160 11 17387916 missense variant A/C snv 0.810 1.000 13 2004 2017
dbSNP: rs1048095
rs1048095
1 1.000 0.080 11 17461731 missense variant A/G snv 0.810 1.000 5 2006 2007
dbSNP: rs193929333
rs193929333
1 1.000 0.080 11 17387989 missense variant A/C;G snv 0.800 1.000 13 2004 2017
dbSNP: rs193929353
rs193929353
4 0.882 0.120 11 17387206 missense variant T/C;G snv 0.800 1.000 13 2004 2017
dbSNP: rs80356615
rs80356615
4 0.851 0.240 11 17387934 missense variant C/T snv 0.800 1.000 13 2004 2017
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.800 1.000 13 2004 2017
dbSNP: rs80356620
rs80356620
3 0.882 0.160 11 17387593 missense variant T/G snv 0.800 1.000 13 2004 2017
dbSNP: rs80356621
rs80356621
1 1.000 0.080 11 17387583 missense variant T/C snv 0.800 1.000 13 2004 2017
dbSNP: rs80356622
rs80356622
1 1.000 0.080 11 17387582 missense variant C/G snv 0.800 1.000 13 2004 2017
dbSNP: rs80356625
rs80356625
6 0.827 0.280 11 17387491 missense variant G/A snv 0.800 1.000 13 2004 2017
dbSNP: rs137852676
rs137852676
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.800 1.000 4 2006 2007
dbSNP: rs80356634
rs80356634
1 1.000 0.080 11 17474961 missense variant T/C snv 0.800 1.000 4 2006 2007
dbSNP: rs80356637
rs80356637
4 0.851 0.240 11 17470119 missense variant A/C;G snv 0.800 1.000 4 2006 2007
dbSNP: rs80356640
rs80356640
1 1.000 0.080 11 17461778 missense variant G/A;T snv 3.2E-05 0.800 1.000 4 2006 2007
dbSNP: rs80356642
rs80356642
1 1.000 0.080 11 17461767 missense variant A/C snv 0.800 1.000 4 2006 2007
dbSNP: rs80356651
rs80356651
1 1.000 0.080 11 17453151 missense variant C/T snv 0.800 1.000 4 2006 2007
dbSNP: rs80356653
rs80356653
1 1.000 0.080 11 17395647 missense variant T/C snv 0.800 1.000 4 2006 2007
dbSNP: rs121908277
rs121908277
1 1.000 0.080 11 2159877 missense variant T/C snv 0.800 1.000 2 2007 2008
dbSNP: rs80356654
rs80356654
2 0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06 0.800 1.000 2 2001 2014
dbSNP: rs80356655
rs80356655
2 0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06 0.800 1.000 2 2001 2014
dbSNP: rs80356663
rs80356663
3 0.925 0.120 11 2160901 missense variant G/A;T snv 0.800 1.000 2 2007 2008