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rs1047552

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome15
Position63305658
GeneAPH1B
is asnp
is mentioned by
dbSNPrs1047552
ebirs1047552
HLIrs1047552
Exacrs1047552
Varsomers1047552
Maprs1047552
PheGenIrs1047552
hapmaprs1047552
1000 genomesrs1047552
hgdprs1047552
ensemblrs1047552
gopubmedrs1047552
geneviewrs1047552
scholarrs1047552
googlers1047552
pharmgkbrs1047552
gwascentralrs1047552
openSNPrs1047552
23andMers1047552
23andMe allrs1047552
SNP Nexus

SNPshotrs1047552
SNPdbers1047552
MSV3drs1047552
GWAS Ctlgrs1047552
GMAF0.1019
Max Magnitude0
? (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 18987747OA-icon.png] 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


GET Evidence
APH1B-F217L
aa_change Phe217Leu
aa_change_short F217L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0394125
summary