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: rs1289280947
rs1289280947
5 0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs774904310
rs774904310
3 0.925 0.080 9 21971055 frameshift variant C/- delins 0.010 1.000 1 2009 2009