Table 1 EPOR sequence variant rs370865377 associating with elevated serum EPO levels in Iceland

From: A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

        

GWAS (N = 4187)

Replication (N = 34 matched pairs)

Combined

Gene

Chr

Pos (hg38)

rs name

MAF (%)

HGVS

Allele (min/maj)

Infoa

P valueb

Effect (SD)

P valuec

P valued

EPOR

19

11,383,104

rs370865377

0.09

p.Gln82Ter

A/G

1.00

3.3 × 10−7

1.47 (0.91, 2.03)

1.7 × 10−6

1.6 × 10−11

  1. Results from the initial and replication experiments are presented, along with their combined P value. The effect for the initial experiment is 1.47 SD per allele. The carriers in the replication experiment had median EPO levels 3.23-fold higher than their matched controls
  2. MAF minor allele frequency, CI confidence interval
  3. a Imputation quality score (Info)
  4. b Chi-square test
  5. c Wilcoxon signed-rank test
  6. d Fisher’s combined probability test
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