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: rs886043751
rs886043751
2 0.925 0.240 16 20348557 stop gained G/C;T snv 0.710 1.000 1 2007 2007