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rs769455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs769455(C;T)
Make rs769455(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position44908783
GeneAPOE
is asnp
is mentioned by
dbSNPrs769455
ebirs769455
HLIrs769455
Exacrs769455
Varsomers769455
Maprs769455
PheGenIrs769455
hapmaprs769455
1000 genomesrs769455
hgdprs769455
ensemblrs769455
gopubmedrs769455
geneviewrs769455
scholarrs769455
googlers769455
pharmgkbrs769455
gwascentralrs769455
openSNPrs769455
23andMers769455
23andMe allrs769455
SNP Nexus

SNPshotrs769455
SNPdbers769455
MSV3drs769455
GWAS Ctlgrs769455
GMAF0.009642
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM107741
DescHYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
Variant0004
Relatedalso

The ancestral allele is C.

Neighborrs28931578
Distance32
Neighborrs7412
Distance39


ClinVar
Risk rs769455(T;T)
Alt rs769455(T;T)
Reference rs769455(C;C)
Significance Pathogenic
Disease Familial type 3 hyperlipoproteinemia
Variation info
Gene APOE
CLNDBN Familial type 3 hyperlipoproteinemia
Reversed 0
HGVS NC_000019.9:g.45412040C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019432.29, RCV000019443.27,



[PMID 17658295] Association of ApoE genetic variants with obstructive sleep apnea in children.

[PMID 17672902OA-icon.png] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.


GET Evidence
APOE-R163C
aa_change Arg163Cys
aa_change_short R163C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00513196
summary