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: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.080 1.000 8 2009 2014
dbSNP: rs1462028977
rs1462028977
4 0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs200482683
rs200482683
6 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs530318579
rs530318579
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs74315342
rs74315342
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2008 2008
dbSNP: rs74315343
rs74315343
5 0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs74315344
rs74315344
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs748812981
rs748812981
4 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs869025495
rs869025495
6 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2004 2004