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rs2986017

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) normal
(C;T) no clear risk
(T;T) no clear risk
ReferenceGRCh38 38.1/142
Chromosome10
Position103458495
GeneCALHM1, LOC100505820
is asnp
is mentioned by
dbSNPrs2986017
ebirs2986017
HLIrs2986017
Exacrs2986017
Varsomers2986017
Maprs2986017
PheGenIrs2986017
hapmaprs2986017
1000 genomesrs2986017
hgdprs2986017
ensemblrs2986017
gopubmedrs2986017
geneviewrs2986017
scholarrs2986017
googlers2986017
pharmgkbrs2986017
gwascentralrs2986017
openSNPrs2986017
23andMers2986017
23andMe allrs2986017
SNP Nexus

SNPshotrs2986017
SNPdbers2986017
MSV3drs2986017
GWAS Ctlgrs2986017
GMAF0.1506
Max Magnitude
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-β 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: 1.27–1.59, p = 2x10e−10). [PMID 18585350OA-icon.png]

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 19472444OA-icon.png] CALHM1 polymorphism is not associated with late-onset Alzheimer disease

OMIM605526
DescALZHEIMER DISEASE 6
Variant
Relatedalso
OMIM612234
DescCALCIUM HOMEOSTASIS MODULATOR 1; CALHM1
Variant
Relatedalso

[PMID 19749425] CALHM1 P86L Polymorphism is a Risk Factor for Alzheimer's Disease in the Chinese Population



[PMID 20164592] CALHM1 P86L Polymorphism is Associated with Late-Onset Alzheimer's Disease in a Recessive Model

[PMID 20164573] Genetic Association Between CALHM1, 2, and 3 Polymorphisms and Alzheimer's Disease in a Japanese Population


[PMID 20634593OA-icon.png] Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels


[PMID 21629967OA-icon.png] CALHM1 P86L polymorphism modulates CSF A? levels in cognitively healthy individuals at risk for Alzheimer's disease


[PMID 19070563OA-icon.png] No association between CALHM1 and Alzheimer's disease risk.


[PMID 19191331OA-icon.png] No association between CALHM1 variation and risk of Alzheimer disease.


[PMID 20061624] CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.


[PMID 20574532OA-icon.png] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.


[PMID 21378601] No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.


[PMID 21439911] A polymorphism in CALHM1 is associated with temporal lobe epilepsy.


GET Evidence
CALHM1-L86P
aa_change Leu86Pro
aa_change_short L86P
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.797841
summary



[PMID 24326043] No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population


[PMID 22874670OA-icon.png] Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.