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: rs794729664
rs794729664
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016