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: rs80358721
rs80358721
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.010 1.000 1 2009 2009