Source: ALL
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: rs1262969313
rs1262969313
CPNE1 ; RBM12
1 1.000 20 35652791 frameshift variant A/- del 0.700 0
dbSNP: rs781720548
rs781720548
CPNE1 ; RBM12
5 0.882 0.040 20 35652946 stop gained C/A snv 0.700 0