{{Rsnum
|rsid=1047552
|Gene=APH1B
|Chromosome=15
|position=63305658
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.1019
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=APH1B
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 0.0 | 4.4 | 95.6
| HCB | 4.4 | 26.5 | 69.1
| JPT | 4.4 | 40.7 | 54.9
| YRI | 0.0 | 11.0 | 89.0
| ASW | 1.8 | 10.7 | 87.5
| CHB | 4.4 | 26.5 | 69.1
| CHD | 0.0 | 25.2 | 74.8
| GIH | 0.0 | 9.9 | 90.1
| LWK | 0.0 | 17.3 | 82.7
| MEX | 5.2 | 13.8 | 81.0
| MKK | 0.6 | 20.8 | 78.6
| TSI | 1.0 | 6.9 | 92.2
| HapMapRevision=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|OA=1
}} [[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 Auto
|PMID=19774691
|Title=Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations
}}

{{GET Evidence
|gene=APH1B
|aa_change=Phe217Leu
|aa_change_short=F217L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1047552
|overall_frequency_n=424
|overall_frequency_d=10758
|overall_frequency=0.0394125
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.865
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}