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Table 1 Population frequencies of the RNF213 p.Arg4810Lys variant in Asian countries

From: Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

Population

c.14429G > A genotype

Sample

Carrier frequency %

MAF %

P-valuea

Reference

(sample type)

Wild-type: G/G

Hetero-zygous: G/A

Homo-zygous: A/A

size

(95 % CI)

(95 % CI)

  

Korean (adults)

698

19

0

717

2.65 (1.70–4.10)

1.32 (0.85–2.05)

-

This study

Korean (cord blood)

781

18

0

799

2.25 (1.43–3.53)

1.13 (0.72–1.78)

0.76

This study

Korean (unknown)

286

8

0

294

2.72 (1.38–5.28)

1.36 (0.69–2.66)

1.00

[8]

Korean (unknown)

217

6

0

223

2.69 (1.24–5.74)

1.35 (0.62–2.91)

1.00

[6]

Japanese (unknown)

1,437

34

3

1,474

2.51 (1.83–3.44)

1.36 (1.00–1.85)

0.92

[8]

Japanese (unknown)

374

9

1

384

2.60 (1.42–4.72)

1.43 (0.80–2.54)

0.84

[6]

Chinese (unknown)

582

5

0

587

0.85 (0.36–1.98)

0.43 (0.18–1.00)

0.02

[8]

Chinese (unknown)

148

2

0

150

1.33 (0.36–4.73)

0.67 (0.18–2.40)

0.56

[6]

  1. Abbreviations: MAF, minor allele frequency; CI, confidence interval
  2. The results from this study are shown in bold
  3. aKorean (adults) vs other study