rs144467873

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	familial hypercholesterolemia
(A;G)	3	carrier of familial hypercholesterolemia mutation
(G;G)	0	common/normal

Reference

GRCh38 38.1/142

Chromosome

2

Position

21006289

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs144467873
dbSNP (classic)	rs144467873
ClinGen	rs144467873
ebi	rs144467873
HLI	rs144467873
Exac	rs144467873
Gnomad	rs144467873
Varsome	rs144467873
LitVar	rs144467873
Map	rs144467873
PheGenI	rs144467873
Biobank	rs144467873
1000 genomes	rs144467873
hgdp	rs144467873
ensembl	rs144467873
geneview	rs144467873
scholar	rs144467873
google	rs144467873
pharmgkb	rs144467873
gwascentral	rs144467873
openSNP	rs144467873
23andMe	rs144467873
SNPshot	rs144467873
SNPdbe	rs144467873
MSV3d	rs144467873
GWAS Ctlg	rs144467873

Max Magnitude

5

rs144467873, also known as R3500W, is a SNP in the APOB apolipoprotein B gene.

The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B under the name i4000339. This SNP is found mainly in Asian populations.

ClinVar
Risk	Rs144467873(A;A)
Alt	Rs144467873(A;A)
Reference	Rs144467873(G;G)
Significance	Pathogenic
Disease	Hypercholesterolemia Familial hypercholesterolemia not provided
Variation	info
Gene	APOB
CLNDBN	Hypercholesterolemia, autosomal dominant, type B Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000002.11:g.21229161G>A
CLNSRC
CLNACC	RCV000231844.1, RCV000408839.1, RCV000494148.1,