rs1047552

plus

Geno	Mag	Summary
(G;G)		1.6x higher atherosclerosis risk only in males
(G;T)		1.6x higher atherosclerosis risk only in males
(T;T)	0	normal

Reference

GRCh38 38.1/141

Chromosome

15

Position

63305658

Gene

APH1B

is a	snp
is	mentioned by
dbSNP	rs1047552
dbSNP (classic)	rs1047552
ClinGen	rs1047552
ebi	rs1047552
HLI	rs1047552
Exac	rs1047552
Gnomad	rs1047552
Varsome	rs1047552
LitVar	rs1047552
Map	rs1047552
PheGenI	rs1047552
Biobank	rs1047552
1000 genomes	rs1047552
hgdp	rs1047552
ensembl	rs1047552
geneview	rs1047552
scholar	rs1047552
google	rs1047552
pharmgkb	rs1047552
gwascentral	rs1047552
openSNP	rs1047552
23andMe	rs1047552
SNPshot	rs1047552
SNPdbe	rs1047552
MSV3d	rs1047552
GWAS Ctlg	rs1047552

GMAF

0.1019

Max Magnitude

0

?

(G;G) (G;T) (T;T)

28

This SNP is in the anterior pharynx defective 1 homolog B APH1B gene; the (T) allele encodes the Phe, while the (G) allele encodes the rarer Leu; this SNP is also known as Phe217Leu.

[PMID 18987747 ] rs1047552 previously linked to Alzheimer's disease. Analysis of a Dutch Caucasian cohort (780 cases; 1414 controls) showed a higher prevalence of the risk allele rs1047552(G) in males (OR = 1.63; p = 0.033) for coronary atherosclerosis but not females.

[PMID 19774691] Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations