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rs387906567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Familial type 3 hyperlipoproteinemia
Make rs387906567(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position44908774
GeneAPOE
is asnp
is mentioned by
dbSNPrs387906567
ebirs387906567
HLIrs387906567
Exacrs387906567
Varsomers387906567
Maprs387906567
PheGenIrs387906567
hapmaprs387906567
1000 genomesrs387906567
hgdprs387906567
ensemblrs387906567
gopubmedrs387906567
geneviewrs387906567
scholarrs387906567
googlers387906567
pharmgkbrs387906567
gwascentralrs387906567
openSNPrs387906567
23andMers387906567
23andMe allrs387906567
SNP Nexus

SNPshotrs387906567
SNPdbers387906567
MSV3drs387906567
GWAS Ctlgrs387906567
Max Magnitude3

rs387906567, also known as c.478C>T, Arg160Cys and R160C, is a SNP in the APOE gene on chromosome 19. The less common allele, rs387906567(T), is normally found in a haplotype consisting of it and rs429358(C), the less common allele for that APOE SNP as well.

Together, this haplotype is reported to be inherited in an autosomal dominant manner, leading to familial hyperlipoproteinemia, type III.[PMID 2539388OA-icon.png]. Subsequent studies have implicated the Arg160Cys change in this haplotype as being responsible for the defective lipoprotein binding associated with that condition.

See also: OMIM 107741.0008

In 23andMe data, rs387906567 is referred to as i5000217 and i6007504.


ClinVar
Risk rs387906567(T;T)
Alt rs387906567(T;T)
Reference rs387906567(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.45412031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019438.28,