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: rs587776892
rs587776892
2 0.925 0.120 20 63930871 inframe deletion CTC/- delins 0.700 1.000 5 2011 2013