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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
ebirs562556
HLIrs562556
Exacrs562556
Varsomers562556
Maprs562556
PheGenIrs562556
hapmaprs562556
1000 genomesrs562556
hgdprs562556
ensemblrs562556
gopubmedrs562556
geneviewrs562556
scholarrs562556
googlers562556
pharmgkbrs562556
gwascentralrs562556
openSNPrs562556
23andMers562556
23andMe allrs562556
SNP Nexus

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.


Venter snp
Source plos
Gene PCSK9
allele A
frequency
sift AFFECT FUNCTION
HuRef 1103675097450
Disease Association Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) (MIM:603776). FH3 inheritance is autosomal dominant.



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


GET Evidence
PCSK9-V474I
aa_change Val474Ile
aa_change_short V474I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.817345
summary



ClinVar
Risk rs562556(A;A)
Alt rs562556(A;A)
Reference rs562556(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PCSK9
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.55524237G>A
CLNSRC
CLNACC RCV000182572.1,



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