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: rs121908261
rs121908261
5 0.851 0.120 11 2160809 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121908279
rs121908279
3 0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs80356664
rs80356664
5 0.882 0.120 11 2160878 missense variant C/G;T snv 0.010 1.000 1 2016 2016