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Table 1 Total number of variants in 1779 individuals by MAF and functional category

From: NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

Type

Frequencya

Number of variants

Functional variation

Protein coding region

Non-coding region

Silent/nonframeshift

Missense/frameshift

Stoploss/Stopgain

Unknown

Intronic

Intergenic

Splicing

UTR

ncRNA

SNP

Singleton

17,811,366

86,804

146,480

3722

2690

6,842,300

9,370,754

2110

247,422

1,109,084

Rare

13,673,626

54,642

87,791

1658

1917

5,270,353

7,248,270

1363

164,492

843,140

Low

3,430,315

12,753

15,710

232

428

1,299,727

1,851,373

245

38,673

211,174

Common

5,727,339

17,886

15,981

151

729

2,049,372

3,228,994

159

53,221

360,846

Total

40,642,646

172,085

265,962

5763

5764

15,461,752

21,699,391

3877

503,808

2,524,244

Indel

Singleton

1,402,707

3191

5068

157

129

558,772

717,182

517

27,748

89,943

Rare

1,376,996

2733

2884

127

127

544,183

717,045

217

22,047

87,633

Low

452,337

634

827

37

37

173,946

241,506

61

6444

28,845

Common

569,436

422

369

18

89

207,132

317,135

145

7157

36,969

Total

3,801,476

6980

9148

339

382

1,484,033

1,992,868

940

63,396

243,390

  1. aRare, MAF < 0.5%; low, 0.5% ≤ MAF < 5%; common, MAF ≥ 5%