rs4420638

plus

Geno	Mag	Summary
(A;A)	0	Normal/Average risk for Alzheimer's
(A;G)	2	~3x increased Alzheimer's risk; 1.4x increased heart disease risk ; increased LDL cholesterol
(G;G)	3	2x+ increased Alzheimer's risk, further genotyping suggested ; increased LDL cholesterol

Reference

GRCh38 38.1/141

Chromosome

19

Position

44919689

Gene

APOC1

is a	snp
is	mentioned by
dbSNP	rs4420638
dbSNP (classic)	rs4420638
ClinGen	rs4420638
ebi	rs4420638
HLI	rs4420638
Exac	rs4420638
Gnomad	rs4420638
Varsome	rs4420638
LitVar	rs4420638
Map	rs4420638
PheGenI	rs4420638
Biobank	rs4420638
1000 genomes	rs4420638
hgdp	rs4420638
ensembl	rs4420638
geneview	rs4420638
scholar	rs4420638
google	rs4420638
pharmgkb	rs4420638
gwascentral	rs4420638
openSNP	rs4420638
23andMe	rs4420638
SNPshot	rs4420638
SNPdbe	rs4420638
MSV3d	rs4420638
GWAS Ctlg	rs4420638

GMAF

0.1635

Max Magnitude

3

?

(A;A) (A;G) (G;G)

28

Apolipoprotein E ApoE status is technically defined by two different SNPs, rs429358 and rs7412. This SNP, rs4420638, is situated about 14kb away in the adjacent ApoC1 gene and is co-inherited with ApoE and thus associated with late-onset Alzheimer's disease.[PMID 17192785]

rs4420638 (the proxy SNP) is not independent of rs429358. These two SNPs are correlated with each other and it's believed that most of the association with AD at rs4420638 is due to its proximity to rs429358. That said, rs4420638 is not a perfect proxy for rs429358 either -- rs4420638 correlates better for certain genotypes and for certain ethnicities. For example, if