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rs28942111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 4.5 Familial hypercholesterolemia
(T;T) 0 common in clinvar


Make rs28942111(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position55044016
GenePCSK9
is asnp
is mentioned by
dbSNPrs28942111
ebirs28942111
HLIrs28942111
Exacrs28942111
Varsomers28942111
Maprs28942111
PheGenIrs28942111
hapmaprs28942111
1000 genomesrs28942111
hgdprs28942111
ensemblrs28942111
gopubmedrs28942111
geneviewrs28942111
scholarrs28942111
googlers28942111
pharmgkbrs28942111
gwascentralrs28942111
openSNPrs28942111
23andMers28942111
23andMe allrs28942111
SNP Nexus

SNPshotrs28942111
SNPdbers28942111
MSV3drs28942111
GWAS Ctlgrs28942111
Max Magnitude4.5

rs28942111, also known as c.381T>A, p.Ser127Arg and S127R, is one of the first missense mutations in the PCSK9 gene found to lead to autosomal dominantly inherited familial hypercholesterolemia.[PMID 12730697]

See OMIM 607786.0001 for more information.

OMIM607786
DescHYPERCHOLESTEROLEMIA, FAMILIAL, 3
Variant0001
Relatedalso
ClinVar
Risk rs28942111(A;A)
Alt rs28942111(A;A)
Reference rs28942111(T;T)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55509689T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003007.2,