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: rs1557090220
rs1557090220
L1CAM
1 1.000 0.080 X 153864820 splice donor variant C/G snv 0.700 1.000 1 2010 2010