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: rs74315289
rs74315289
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.050 1.000 5 2003 2015
dbSNP: rs121909132
rs121909132
3 0.882 0.160 1 16048537 missense variant G/A snv 7.6E-05 6.3E-05 0.020 1.000 2 2013 2017
dbSNP: rs121909136
rs121909136
2 0.925 0.120 1 16055508 stop gained G/A snv 1.7E-04 8.4E-05 0.020 1.000 2 2005 2013
dbSNP: rs104893706
rs104893706
4 0.851 0.240 3 122284482 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121908144
rs121908144
3 0.882 0.240 1 54999221 missense variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs1441473012
rs1441473012
1 1.000 0.120 11 128839604 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs200320892
rs200320892
1 1.000 0.120 11 128839643 missense variant G/A snv 3.6E-04 8.4E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs746910658
rs746910658
1 1.000 0.120 15 48299173 stop gained T/C;G snv 4.1E-06 0.010 1.000 1 2003 2003