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Table 1 Association of ABCA7 variants with Alzheimer’s disease in studied groups based on Fisher’s association test, including age, gender, and PC as covariates. Gene-based analysis was conducted with CMC collapsing method

From: Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European–Americans

rsID/positiona

MAF

OR

P

Cases

Controls

(95 % CI)

rs4147929

0.179

0.1581

1.162

0.022

(GWAS SNP)

(1.02–1.31)

19:998507a

0.006

0.0037

1.735

0.121

p.Glu709AlafsX86

(0.543.04)

19:1006907a

0.003

0.0027

1.285

0.569

p.Leu1403ArgfsX7

(0.763.21)

rs113809142

0.002

0.0012

1.695

0.451

c.4416+2T>G

(0.345.91)

rs200538373

0.009

0.0076

1.231

0.476

c.5570+5G>C

(0.682.61)

Loss-of-function

0.016

0.0107

1.549

0.038

(All low frequency variants)

(1.02–2.34)

  1. aNCBI Build 36
  2. MAF
  3. Values shown in bold are significant at the P < 0.05 level
  4. CI Confidence interval, CMC Combined multivariate and collapsing, GWAS Genome-wide association study, MAF Minor allele frequency, OR Odds ratio, PC Principal component factors, SNP Single Nucleotide Polymorphism