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: rs1057518698
rs1057518698
1 1.000 0.080 7 41967775 frameshift variant T/- del 0.700 1.000 1 1997 1997
dbSNP: rs1060499558
rs1060499558
2 0.925 0.080 7 41965438 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs121917710
rs121917710
2 0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03 0.700 1.000 1 1999 1999