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: rs587779779
rs587779779
2 0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06 0.700 1.000 1 2015 2015