LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989888
rs875989888
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing. 24075752 2013
dbSNP: rs875989888
rs875989888
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997