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: rs587776703
rs587776703
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018