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: rs121918362
rs121918362
1 1.000 0.080 X 46501237 stop gained C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121918521
rs121918521
2 0.925 0.080 X 40597269 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918524
rs121918524
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs137852351
rs137852351
2 0.925 0.080 X 123427954 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1433911627
rs1433911627
1 1.000 0.080 X 46472860 stop gained G/T snv 5.5E-06 9.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs145438966
rs145438966
1 1.000 0.080 X 153694800 missense variant A/G snv 1.6E-03 3.7E-04 0.010 < 0.001 1 2004 2004
dbSNP: rs28934904
rs28934904
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs28935498
rs28935498
2 0.925 0.080 X 54470182 missense variant G/A snv 3.1E-04 3.3E-04 0.010 1.000 1 2002 2002
dbSNP: rs368568228
rs368568228
2 0.925 0.080 X 123404763 missense variant G/A snv 2.7E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs587777605
rs587777605
2 0.925 0.080 X 107905593 missense variant G/A snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs781899045
rs781899045
1 1.000 0.080 X 153695191 missense variant G/A snv 1.4E-05 3.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs866776696
rs866776696
1 1.000 0.080 X 70445553 stop gained G/T snv 0.010 1.000 1 2006 2006
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.020 1.000 2 2002 2016