Annotation Detail

Information
Associated Genes
LRP8
Associated Variants
NC_000019.10:g.44911194T>C
LRP8 p.Asp874= (p.D874=) ( ENST00000354412.7, ENST00000668448.1, ENST00000667377.1, ENST00000306052.12, ENST00000662198.1, ENST00000347547.7, ENST00000371454.6, ENST00000662604.1, ENST00000658277.1, ENST00000657895.1 )
LRP8 p.Asp874Glu (p.D874E) ( ENST00000306052.12, ENST00000347547.7, ENST00000662198.1, ENST00000667377.1, ENST00000668448.1, ENST00000354412.7, ENST00000657895.1, ENST00000662604.1, ENST00000658277.1, ENST00000371454.6 )
LRP8 p.Gly419= (p.G419=) ( ENST00000659993.1, ENST00000371454.6, ENST00000658277.1, ENST00000662604.1, ENST00000657895.1, ENST00000668448.1, ENST00000354412.7, ENST00000667377.1, ENST00000347547.7, ENST00000662198.1, ENST00000306052.12 )
NC_000019.10:g.44911194T>C
LRP8 p.Asp874= (p.D874=) ( ENST00000306052.12, ENST00000347547.7, ENST00000354412.7, ENST00000371454.6, ENST00000657895.1, ENST00000658277.1, ENST00000662198.1, ENST00000662604.1, ENST00000667377.1, ENST00000668448.1 )
LRP8 p.Asp874Glu (p.D874E) ( ENST00000306052.12, ENST00000347547.7, ENST00000354412.7, ENST00000371454.6, ENST00000657895.1, ENST00000658277.1, ENST00000662198.1, ENST00000662604.1, ENST00000667377.1, ENST00000668448.1 )
LRP8 p.Gly419= (p.G419=) ( ENST00000306052.12, ENST00000347547.7, ENST00000354412.7, ENST00000371454.6, ENST00000657895.1, ENST00000658277.1, ENST00000659993.1, ENST00000662198.1, ENST00000662604.1, ENST00000667377.1, ENST00000668448.1 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (APOER2), with an effect on memory performance in normal aging subjects consistent with the findings in schizophrenia cases.
Pubmed
22419519
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2012
Drugs