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rs267606664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Rare ApoE1 allele; clinical significance unclear
(G;G) 0 common in clinvar


Make rs267606664(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position44908730
GeneAPOE
is asnp
is mentioned by
dbSNPrs267606664
dbSNP (classic)rs267606664
ClinGenrs267606664
ebirs267606664
HLIrs267606664
Exacrs267606664
Gnomadrs267606664
Varsomers267606664
LitVarrs267606664
Maprs267606664
PheGenIrs267606664
Biobankrs267606664
1000 genomesrs267606664
hgdprs267606664
ensemblrs267606664
geneviewrs267606664
scholarrs267606664
googlers267606664
pharmgkbrs267606664
gwascentralrs267606664
openSNPrs267606664
23andMers267606664
23andMe allrs267606664
SNPshotrs267606664
SNPdbers267606664
MSV3drs267606664
GWAS Ctlgrs267606664
Max Magnitude4

rs267606664 represents a variant in the APOE gene on chromosome 19. Based on electrophoretic mobility differences, this variant gave rise to a protein termed the ApoE-1 variant.

This variant is also as c.434G>A, p.Gly145Asp or G145D, or in older numbering, p.Gly127Asp or G127D, and while reported in 1984 in a Finnish hypertriglyceridemia patient, OMIM reports that the association with that disorder was unclear.

The 23andMe name for this variant is i6007510.


ClinVar
Risk rs267606664(A;A)
Alt rs267606664(A;A)
Reference Rs267606664(G;G)
Significance Pathogenic
Disease Apolipoproteinemia E1
Variation info
Gene APOE
CLNDBN Apolipoproteinemia E1
Reversed 0
HGVS NC_000019.9:g.45411987G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019439.27,