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: rs587777343
rs587777343
5 0.925 0.120 16 682232 missense variant C/T snv 0.010 1.000 1 2014 2014