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rs12713559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of possible familial hypercholesterolemia mutation
Make rs12713559(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position21006196
GeneAPOB
is asnp
is mentioned by
dbSNPrs12713559
ebirs12713559
HLIrs12713559
Exacrs12713559
Varsomers12713559
Maprs12713559
PheGenIrs12713559
hapmaprs12713559
1000 genomesrs12713559
hgdprs12713559
ensemblrs12713559
gopubmedrs12713559
geneviewrs12713559
scholarrs12713559
googlers12713559
pharmgkbrs12713559
gwascentralrs12713559
openSNPrs12713559
23andMers12713559
23andMe allrs12713559
SNP Nexus

SNPshotrs12713559
SNPdbers12713559
MSV3drs12713559
GWAS Ctlgrs12713559
Merged fromRs17241062
GMAF0.0004591
Max Magnitude3

rs12713559, also known as c.10672C>T, p.Arg3558Cys, R3558C and R3531C, 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, and where they note that the evidence is unclear about whether this mutation is causative on its own. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs12713559(T).

? (C;C) (C;T) (T;T) 28
? (C;C)
OMIM107730
Desc
Variant0017
Relatedalso


ClinVar
Risk rs12713559(T;T)
Alt rs12713559(T;T)
Reference rs12713559(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia not provided not specified Hypercholesterolemia Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypercholesterolemia not provided not specified Hypercholesterolemia, autosomal dominant, type B Hypobetalipoproteinemia, familial, 1
Reversed 1
HGVS NC_000002.11:g.21229068G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019486.27, RCV000181038.2, RCV000219069.1, RCV000226811.1,



Familial Hypercholesterolemia Type B