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: rs72552734
rs72552734
1 1.000 0.160 5 132392519 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 19 1999 2017