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: rs905880501
rs905880501
5 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012