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rs5742904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Hypercholesterolemia, Type B; homozygote
(A;G) 2 Hypercholesterolemia, Type B; heterozygote
(G;G) 0 normal
ReferenceGRCh38 38.1/142
Chromosome2
Position21006288
GeneAPOB
is asnp
is mentioned by
dbSNPrs5742904
dbSNP (old)rs5742904
ClinGenrs5742904
ebirs5742904
HLIrs5742904
Exacrs5742904
Varsomers5742904
Maprs5742904
PheGenIrs5742904
Biobankrs5742904
1000 genomesrs5742904
hgdprs5742904
ensemblrs5742904
gopubmedrs5742904
geneviewrs5742904
scholarrs5742904
googlers5742904
pharmgkbrs5742904
gwascentralrs5742904
openSNPrs5742904
23andMers5742904
23andMe allrs5742904
SNP Nexus

SNPshotrs5742904
SNPdbers5742904
MSV3drs5742904
GWAS Ctlgrs5742904
Max Magnitude4
? (A;A) (A;G) (G;G) 28
rs5742904, also known as c.10580G>A, p.Arg3527Gln, R3527Q or R3500Q, is a SNP in the APOB apolipoprotein B gene.

The risk allele is T according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs5742904(A).

For a clinical case discussion of this SNP, see 'Clinical Case 2' within Box 1 of [PMID 19602640OA-icon.png].

OMIM107730
DescHYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
Variant0009
Relatedalso
Neighborrs17241062
Distance93


ClinVar
Risk Rs5742904(A;A)
Alt Rs5742904(A;A)
Reference Rs5742904(G;G)
Significance Other
Disease Familial hypercholesterolemia not provided Familial hypobetalipoproteinemia Hypercholesterolemia
Variation info
Gene APOB
CLNDBN Familial hypercholesterolemia not provided Familial hypobetalipoproteinemia Hypercholesterolemia, autosomal dominant, type B
Reversed 1
HGVS NC_000002.11:g.21229160C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019479.32, RCV000254882.2, RCV000284412.1, RCV000412515.1,



[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Familial Hypercholesterolemia Type B