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: rs72549398
rs72549398
8 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019