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: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0