{{Rsnum
|rsid=2986017
|Gene=CALHM1
|Chromosome=10
|position=105218252
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1506
|Gene_s=CALHM1,LOC100505820
|Assembly=GRCh37.p5
|GenomeBuild=37.3
|dbSNPBuild=137
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
[[rs2986017]], also known as L86P, is a SNP in the [[CALHM1]] gene. This gene encodes a multipass transmembrane glycoprotein that is involved in the control of cytosolic calcium concentrations and cerebral amyloid-Î² levels.

In case-control studies of 3,404 participants, the [[rs2986017]](T) allele was significantly associated with late-onset [[Alzheimer's disease]]. The allele-specific odds ratio was 1.44 (CI: 1.27â€“1.59, p = 2x10eâˆ’10). {{PMID|18585350|OA=1
}}

A study of 62 Belgian [[Alzheimer's disease]] patients and 519 ethnically matched control individuals found no evidence of association between [[rs2986017]] and risk of disease, nor with onset age.{{PMID|19191332}}
{{PMID Auto
|PMID=19472444
|Title=CALHM1 polymorphism is not associated with late-onset Alzheimer disease
|OA=1
}}

{{omim
|desc=ALZHEIMER DISEASE 6
|id=605526
|rsnum=2986017
}}

{{omim
|desc=CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1
|id=612234
|rsnum=2986017
}}
{{PMID Auto
|PMID=19749425
|Title=CALHM1 P86L Polymorphism is a Risk Factor for Alzheimer's Disease in the Chinese Population
}}

{{PharmGKB
|RSID=rs2986017
|Name_s=CALHM1: P86L
|Gene_s=CALHM1, CALHM2
|Feature=
|Evidence=PubMed ID:18585350
|Annotation=This variant increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability. The SNP is significantly associated with Alzheimer's disease in independent case-control studies of 3404 participants.
|Drugs=
|Drug Classes=
|Diseases=Alzheimer Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA161925566
}}

{{PMID Auto
|PMID=20164592
|Title=CALHM1 P86L Polymorphism is Associated with Late-Onset Alzheimer's Disease in a Recessive Model
}}
{{PMID Auto
|PMID=20164573
|Title=Genetic Association Between CALHM1, 2, and 3 Polymorphisms and Alzheimer's Disease in a Japanese Population
}}

{{PMID Auto
|PMID=20634593
|Title=Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels
|OA=1
}}

{{PMID Auto
|PMID=21629967
|Title=CALHM1 P86L polymorphism modulates CSF A? levels in cognitively healthy individuals at risk for Alzheimer's disease
|OA=1
}}

{{PMID Auto
|PMID=19070563
|Title=No association between CALHM1 and Alzheimer's disease risk.
|OA=1
}}

{{PMID Auto
|PMID=19191331
|Title=No association between CALHM1 variation and risk of Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=20061624
|Title=CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.
}}

{{PMID Auto
|PMID=20574532
|Title=Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=21378601
|Title=No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.
}}

{{PMID Auto
|PMID=21439911
|Title=A polymorphism in CALHM1 is associated with temporal lobe epilepsy.
}}

{{GET Evidence
|gene=CALHM1
|aa_change=Leu86Pro
|aa_change_short=L86P
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2986017
|overall_frequency_n=8572
|overall_frequency_d=10744
|overall_frequency=0.797841
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=43
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|in_pharmgkb=Y
|nblosum100=7
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24326043
|Title=No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population
}}

{{PMID Auto
|PMID=22874670
|Title=Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}