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rs144467873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 familial hypercholesterolemia
(A;G) 3 carrier of familial hypercholesterolemia mutation
(G;G) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome2
Position21006289
GeneAPOB
is asnp
is mentioned by
dbSNPrs144467873
ebirs144467873
HLIrs144467873
Exacrs144467873
Varsomers144467873
Maprs144467873
PheGenIrs144467873
hapmaprs144467873
1000 genomesrs144467873
hgdprs144467873
ensemblrs144467873
gopubmedrs144467873
geneviewrs144467873
scholarrs144467873
googlers144467873
pharmgkbrs144467873
gwascentralrs144467873
openSNPrs144467873
23andMers144467873
23andMe allrs144467873
SNP Nexus

SNPshotrs144467873
SNPdbers144467873
MSV3drs144467873
GWAS Ctlgrs144467873
Max Magnitude5
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
Variation info
Gene APOB
CLNDBN Hypercholesterolemia, autosomal dominant, type B
Reversed 0
HGVS NC_000002.11:g.21229161G>A
CLNSRC
CLNACC RCV000231844.1,