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Table 3 Geographic distribution of RNF213 p. R4810K in East Asian populations

From: Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

Country

Location

Genotype of p.R4810K

Sample size

Carrier frequency  %

MAF  %

References

GG

GA

AA

Japan

Uji city

510

9

0

519

1.73

0.87

This study

Mainland

1339

32

3

1374

2.55

1.38

[9]

Mainland

374

9

1

384

2.60

1.43

[7]

Okinawa

98

2

0

100

2.00

1.00

[9]

Nyukawa

959

23

2

984

2.54

1.39

[10]

Noshiro

2432

11

0

2443

0.45

0.23

[10]

Fielda

857

23

1

881

2.72

1.44

[10]

Unknown

423

6

0

429

1.40

0.70

[6]

Unknown

278

5

0

283

1.77

0.89

[8]

Unknown

108

2

0

110

1.81

0.92

[11]

China

Northern part

339

3

0

342

0.88

0.44

[9]

Southern part

243

2

0

245

0.82

0.41

[9]

Unknown

148

2

0

150

1.33

0.67

[7]

Unknown

505

2

0

507

0.39

0.20

[13]

Korea

Mainland

223

6

0

229

2.62

1.33

[9]

Jeju-do

63

2

0

65

3.08

1.56

[9]

Unknown

217

6

0

223

2.69

1.35

[7]

Unknown

1479

37

0

1516

2.44

1.24

[12]

  1. MAF minor allele frequency
  2. aField, field study in the western part of Japan, i.e., Niigata, Ishikawa, Toyama, Tokyo, Gunma, Nagoya, Aichi, Shiga, Kyoto, Kochi, Ehime, Shimane, Yamaguchi, and Kagoshima