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: rs1553787823
rs1553787823
4 0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins 0.700 1.000 1 2017 2017