Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
LDLR p.Asn591= (p.N591=)
(
ENST00000252444.10,
ENST00000455727.6,
ENST00000535915.5,
ENST00000545707.5,
ENST00000557933.5,
ENST00000558013.5,
ENST00000558518.6,
ENST00000560467.2 )
LDLR p.Asn591= (p.N591=) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 ) - Associated Disease
- Alzheimer's disease
- Source Database
- DisGeNET
- Description
- We previously identified a single nucleotide polymorphism (SNP), rs688:C>T, that modulates LDLR exon 12 splicing and is associated with cholesterol levels in premenopausal women and with Alzheimer disease in men.
- Pubmed
- 20232416
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0351244171967754
- Year of publication
- 2010
Drugs