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rs67608943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 3 40% reduction in LDL-cholesterol
(G;G) 3 Strong reduction in LDL-C
ReferenceGRCh38 38.1/141
Chromosome1
Position55046549
GenePCSK9
is asnp
is mentioned by
dbSNPrs67608943
ClinGenrs67608943
ebirs67608943
HLIrs67608943
Exacrs67608943
Varsomers67608943
Maprs67608943
PheGenIrs67608943
hapmaprs67608943
1000 genomesrs67608943
hgdprs67608943
ensemblrs67608943
gopubmedrs67608943
geneviewrs67608943
scholarrs67608943
googlers67608943
pharmgkbrs67608943
gwascentralrs67608943
openSNPrs67608943
23andMers67608943
23andMe allrs67608943
SNP Nexus

SNPshotrs67608943
SNPdbers67608943
MSV3drs67608943
GWAS Ctlgrs67608943
GMAF0.0004591
Max Magnitude3
OMIM607786
Desc
Variant0004
Relatedalso
rs67608943, also known as Y142X, is a SNP in the PCSK9 gene.

It has been reported in several studies (including [PMID 15654334]) to be both rare (2% frequency in Africans, 0.1% in Europeans) and as a dominant nonsense mutation a cause of plasma LDL-C levels being up to 40% lower than average. This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events.

OMIM607786
Desc
Variant0007
Relatedalso


ClinVar
Risk Rs67608943(G;G)
Alt Rs67608943(G;G)
Reference Rs67608943(C;C)
Significance Other
Disease Low density lipoprotein cholesterol level quantitative trait locus 1
Variation info
Gene PCSK9
CLNDBN Low density lipoprotein cholesterol level quantitative trait locus 1
Reversed 0
HGVS NC_000001.10:g.55512222C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003010.3,



GET Evidence
PCSK9-Y142X
aa_change Tyr142Stop
aa_change_short Y142X
impact protective
qualified_impact Moderate clinical importance, protective
overall_frequency 0.00130136
summary This rare protective variant is found in African Americans and is associated with a greatly decreased risk of coronary heart disease (~80-90% lower risk than average) and with a 30-40% reduction in LDL levels.