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: rs104894655
rs104894655
3 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 1.000 1 2000 2000