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: rs2037815
rs2037815
2 0.925 0.080 2 201236992 intron variant G/A snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs690016548
rs690016548
2 0.925 0.080 5 150056331 missense variant C/T snv 0.010 1.000 1 2013 2013