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: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.050 1.000 5 2002 2011
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 1.000 3 2004 2011
dbSNP: rs143353451
rs143353451
5 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2008 2008
dbSNP: rs369410616
rs369410616
10 0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs587782041
rs587782041
2 0.925 0.080 1 45333297 missense variant G/A;T snv 6.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs765123255
rs765123255
5 0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05 0.010 1.000 1 2014 2014