rs267606664

plus

Geno	Mag	Summary
(A;G)	4	Rare ApoE1 allele; clinical significance unclear
(G;G)	0	common in clinvar

Make rs267606664(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

44908730

Gene

APOE

is a	snp
is	mentioned by
dbSNP	rs267606664
dbSNP (classic)	rs267606664
ClinGen	rs267606664
ebi	rs267606664
HLI	rs267606664
Exac	rs267606664
Gnomad	rs267606664
Varsome	rs267606664
LitVar	rs267606664
Map	rs267606664
PheGenI	rs267606664
Biobank	rs267606664
1000 genomes	rs267606664
hgdp	rs267606664
ensembl	rs267606664
geneview	rs267606664
scholar	rs267606664
google	rs267606664
pharmgkb	rs267606664
gwascentral	rs267606664
openSNP	rs267606664
23andMe	rs267606664
SNPshot	rs267606664
SNPdbe	rs267606664
MSV3d	rs267606664
GWAS Ctlg	rs267606664

Max Magnitude

4

rs267606664 represents a variant in the APOE gene on chromosome 19. Based on electrophoretic mobility differences, this variant gave rise to a protein termed the ApoE-1 variant.

This variant is also as c.434G>A, p.Gly145Asp or G145D, or in older numbering, p.Gly127Asp or G127D, and while reported in 1984 in a Finnish hypertriglyceridemia patient, OMIM reports that the association with that disorder was unclear.

The 23andMe name for this variant is i6007510.

ClinVar
Risk	rs267606664(A;A)
Alt	rs267606664(A;A)
Reference	Rs267606664(G;G)
Significance	Pathogenic
Disease	Apolipoproteinemia E1
Variation	info
Gene	APOE
CLNDBN	Apolipoproteinemia E1
Reversed	0
HGVS	NC_000019.9:g.45411987G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019439.27,