rs387906567

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Familial type 3 hyperlipoproteinemia

Make rs387906567(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

44908774

Gene

APOE

is a	snp
is	mentioned by
dbSNP	rs387906567
dbSNP (classic)	rs387906567
ClinGen	rs387906567
ebi	rs387906567
HLI	rs387906567
Exac	rs387906567
Gnomad	rs387906567
Varsome	rs387906567
LitVar	rs387906567
Map	rs387906567
PheGenI	rs387906567
Biobank	rs387906567
1000 genomes	rs387906567
hgdp	rs387906567
ensembl	rs387906567
geneview	rs387906567
scholar	rs387906567
google	rs387906567
pharmgkb	rs387906567
gwascentral	rs387906567
openSNP	rs387906567
23andMe	rs387906567
SNPshot	rs387906567
SNPdbe	rs387906567
MSV3d	rs387906567
GWAS Ctlg	rs387906567

Max Magnitude

3

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 2539388 ]. 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 UniProtKB (protein)
CLNACC	RCV000019438.29,