Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE The proposed sensor, carried out on microfluidic chemiluminescence (CL) assay, can sensitively discriminate rs242557 hotspot-SNP, the A/G single-nucleotide variation on human chromosome associated with Alzheimer's disease, with an absolute detection limit of 0.3 fmol. 28340771

2017

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE A significant association of SNP rs242557 with AD risk was found in a dominant [odds ratio (OR) = 1.05, 95% confidence interval (CI) = 1.01, 1.10, P = 0.025] genetic model, and a suggestive association in an allelic (OR = 1.03, 95% CI = 1.00, 1.06, P = 0.078). 28415654

2017

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive. 28415654

2017

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE This study demonstrated that different variants in MAPT were associated with AD (rs2471738: OR= 1.04, 95%CI = 1.00 - 1.09; H2: OR = 0.94, 95% CI = 0.91 - 0.97), PD (H2: OR = 0.76, 95% CI = 0.74 - 0.79), PSP (rs242557: OR = 1.96, 95% CI = 1.71 - 2.25; rs2471738: OR = 1.85, 95% CI = 1. 28402959

2017

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE In both European study and our study, the SNP rs242557 showed association with AD. 24923570

2015

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE SNCA rs356165 and the MAPT H1 specific SNP rs242557 did not associate with AD or LB pathology. 22291217

2012

dbSNP: rs242557
rs242557
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE In a case-control study of 300 AD patients and 360 healthy controls, we examined whether the combined gene effects between HO-1 (-413, rs2071746) and tau (5' of exon 1, rs242557) polymorphisms might be responsible for susceptibility to AD. 18841019

2008