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rs11669576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11669576(A;A)
Make rs11669576(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11111624
GeneLDLR
is asnp
is mentioned by
dbSNPrs11669576
ebirs11669576
HLIrs11669576
Exacrs11669576
Varsomers11669576
Maprs11669576
PheGenIrs11669576
hapmaprs11669576
1000 genomesrs11669576
hgdprs11669576
ensemblrs11669576
gopubmedrs11669576
geneviewrs11669576
scholarrs11669576
googlers11669576
pharmgkbrs11669576
gwascentralrs11669576
openSNPrs11669576
23andMers11669576
23andMe allrs11669576
SNP Nexus

SNPshotrs11669576
SNPdbers11669576
MSV3drs11669576
GWAS Ctlgrs11669576
GMAF0.07576
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 22050757] Functional non-synonymous polymorphisms prediction methods: current approaches and future developments

[PMID 17239995] Genetic study evaluating LDLR polymorphisms and Alzheimer's disease.


GET Evidence
LDLR-A391T
aa_change Ala391Thr
aa_change_short A391T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0901655
summary



ClinVar
Risk rs11669576(A;A)
Alt rs11669576(A;A)
Reference rs11669576(G;G)
Significance Non-pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222300G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000162023.1, RCV000237576.1,