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: rs387906659
rs387906659
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.800 1.000 1 2011 2011