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: rs121434375
rs121434375
HJV
4 0.851 0.080 1 146019672 stop gained T/A snv 0.010 1.000 1 2008 2008