Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Recent studies investigating the association of Calcium homeostasis modulator 1 (CALHM1) p.P86L polymorphism (rs2986017) with Alzheimer's disease (AD) are controversial. 26700797

2016

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE In conclusion, our comprehensive meta-analysis indicated that P86L polymorphism is significantly associated with an increased risk for AD. 26944452

2016

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE These results suggest that in the presence of Aβ, P86L-CALHM1 shifts the balance between neurodegeneration and neuronal survival toward the stimulation of pro-cytotoxic pathways, thus potentially contributing to its deleterious effects in AD. 26416646

2015

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Our study suggests that CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population. 24630757

2014

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE A genetic polymorphism (p. P86L) in CALHM1 reduces plasma membrane Ca(2+) permeability and is associated with an earlier age-at-onset of AD. 24069280

2013

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Our data, however, revealed a significant association of CALHM1 P86L with elevated CSF Aβ42 and Aβ40 in the normal cohort at risk for AD. 21629967

2012

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Our findings suggest that the CALHM1 P86L common variant may not influence AD risk in Japanese. 19655363

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls). 20164602

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the ε4 allele of the APOE gene. 20847397

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Recently, the P86L alteration in CALHM1 (calcium homeostasis modulator-1) was reported to be associated with Alzheimer's disease (AD). 20005921

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Importantly, we found that adjusted mean age at AD onset in P86L homozygous LOAD patients was significantly earlier that in the rest of patients (77.01 +/- 6.1 for P86L homozygous carriers versus 79.0 +/- 6.0 for the rest of patients, p=0.002). 20164592

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Its mutated channel P86L-CALHM1 has been associated to Alzheimer's disease (AD). 19944073

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Our study indicates that the CALHM1-P86L polymorphism is associated with AD in the ethnic Chinese Han. 20061624

2010

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE A non-synonymous polymorphism, rs2986017 (p.P86L), in the newly characterized calcium homeostasis modulator 1 (CALHM1) gene located in the Alzheimer dementia (AD) linkage region on 10q24.33, was reported to increase risk of AD, and affect calcium homeostasis and amyloid beta accumulation. 19191332

2009

dbSNP: rs386747134
rs386747134
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Importantly, we determined that the CALHM1 P86L polymorphism (rs2986017) is significantly associated with AD in independent case-control studies of 3404 participants (allele-specific OR = 1.44, p = 2 x 10(-10)). 18585350

2008