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: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs387906780
rs387906780
4 0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2010 2010