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: rs587777788
rs587777788
1 1.000 18 46087222 missense variant T/A;C snv 4.0E-06 0.800 1.000 1 2013 2013