Have questions? Visit https://www.reddit.com/r/SNPedia

rs28942112

From SNPedia

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


Make rs28942112(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position55052400
GenePCSK9
is asnp
is mentioned by
dbSNPrs28942112
ebirs28942112
HLIrs28942112
Exacrs28942112
Varsomers28942112
Maprs28942112
PheGenIrs28942112
hapmaprs28942112
1000 genomesrs28942112
hgdprs28942112
ensemblrs28942112
gopubmedrs28942112
geneviewrs28942112
scholarrs28942112
googlers28942112
pharmgkbrs28942112
gwascentralrs28942112
openSNPrs28942112
23andMers28942112
23andMe allrs28942112
SNP Nexus

SNPshotrs28942112
SNPdbers28942112
MSV3drs28942112
GWAS Ctlgrs28942112
Max Magnitude4.5

rs28942112, also known as c.646T>C, p.Phe216Leu and F216L, is one of the first mutations in the PCSK9 gene reported to lead to autosomal dominantly inherited familial hypercholesterolemia.[PMID 12730697]

See OMIM 607786.0002 for more information.

This SNP is referred to as i5000370 by 23andMe.

OMIM607786
DescHYPERCHOLESTEROLEMIA, FAMILIAL, 3
Variant0002
Relatedalso
ClinVar
Risk rs28942112(C;C)
Alt rs28942112(C;C)
Reference rs28942112(T;T)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55518073T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003008.2,