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: rs121917710
rs121917710
2 0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03 0.700 0
dbSNP: rs121917714
rs121917714
2 0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06 0.010 1.000 1 2016 2016