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: rs137853924
rs137853924
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs398122392
rs398122392
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs398122944
rs398122944
4 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs587778872
rs587778872
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs61751949
rs61751949
2 0.925 0.200 2 208129550 missense variant C/T snv 1.7E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs750872744
rs750872744
2 0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 0.010 1.000 1 2016 2016