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: rs72555392
rs72555392
7 0.807 0.200 3 33072613 missense variant C/T snv 3.6E-05 0.010 1.000 1 2006 2006