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: rs1206992207
rs1206992207
1 1.000 0.040 12 70587201 frameshift variant T/- del 0.010 1.000 1 2015 2015