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rs562556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs562556(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position55058564
GenePCSK9
is asnp
is mentioned by
dbSNPrs562556
dbSNP (classic)rs562556
ClinGenrs562556
ebirs562556
HLIrs562556
Exacrs562556
Gnomadrs562556
Varsomers562556
LitVarrs562556
Maprs562556
PheGenIrs562556
Biobankrs562556
1000 genomesrs562556
hgdprs562556
ensemblrs562556
geneviewrs562556
scholarrs562556
googlers562556
pharmgkbrs562556
gwascentralrs562556
openSNPrs562556
23andMers562556
23andMe allrs562556
SNPshotrs562556
SNPdbers562556
MSV3drs562556
GWAS Ctlgrs562556
GMAF0.1474
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 18300938OA-icon.png] rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.


[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.


ClinVar
Risk Rs562556(A;A)
Alt Rs562556(A;A)
Reference Rs562556(G;G)
Significance Other
Disease not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Variation info
Gene PCSK9
CLNDBN not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Reversed 0
HGVS NC_000001.10:g.55524237G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000182572.3, RCV000256256.2, RCV000330942.1,



[PMID 26820623OA-icon.png] LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.


[PMID 31036026OA-icon.png] The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.