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rs121918394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Hyperlipoproteinemia, type III
Make rs121918394(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position44908786
GeneAPOE
is asnp
is mentioned by
dbSNPrs121918394
dbSNP (old)rs121918394
ClinGenrs121918394
ebirs121918394
HLIrs121918394
Exacrs121918394
Gnomadrs121918394
Varsomers121918394
LitVarrs121918394
Maprs121918394
PheGenIrs121918394
Biobankrs121918394
1000 genomesrs121918394
hgdprs121918394
ensemblrs121918394
gopubmedrs121918394
geneviewrs121918394
scholarrs121918394
googlers121918394
pharmgkbrs121918394
gwascentralrs121918394
openSNPrs121918394
23andMers121918394
23andMe allrs121918394
SNPshotrs121918394
SNPdbers121918394
MSV3drs121918394
GWAS Ctlgrs121918394
Max Magnitude5

rs121918394 represents a variant in the APOE gene on chromosome 19. There are two known alternative alleles, known as c.490A>C, p.Lys164Gln or K164Q, or as c.490A>G, p.Lys164Glu or K164E, using current reference numbering. However, in older publications, this position is historically described as being amino acid 146 (not 164), and so p.Lys146Gln and p.Lys146Glu can also be found as aliases in the literature.

The K164E/K146E variant has been designated ApoE1-Harrisburg according to OMIM, and is a dominant mutation leading to familial dysbetalipoproteinemia. This variant is called i6007512 by 23andMe.

The K164Q/K146Q variant is also a dominant mutation leading with high penetrance to type III hyperlipoproteinemia (i.e. familial dysbetalipoproteinemia), according to OMIM, but it is reportedly observed (electrophoretically) as an E2 phenotype.

Note that the first ApoE1 allele described derives from rs267606664, a variant at a different amino acid, known as c.434G>A, p.Gly145Asp or G145D, or in older numbering, p.Gly127Asp or G127D.


OMIM107741
Desc
Variant0010
Relatedalso
OMIM107741
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918394(C;C) rs121918394(G;G)
Alt rs121918394(C;C) rs121918394(G;G)
Reference Rs121918394(A;A)
Significance Pathogenic
Disease Familial type 3 hyperlipoproteinemia
Variation info
Gene APOE
CLNDBN Familial type 3 hyperlipoproteinemia
Reversed 0
HGVS NC_000019.9:g.45412043A>C; NC_000019.9:g.45412043A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019441.28, RCV000019440.24,