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Table 3 Single variant results demonstrating a significant association among both discovery (p < 7.1 × 10−10) and replication (p < 0.003) stages

From: Whole genome sequence analysis of serum amino acid levels

Metabolite

Variant information

Discovery (AA)

Replication (EA)

Gene

SNP

Function

Chr:position

REF/ALT

MAF

Beta

P

Var Exp

MAF

Beta

P

Var Exp

Glycine

CPS1

rs1047891

Missense

2:211540507

C/A

0.37

0.09

4.5 × 10−19

1.3%

0.31

0.16

4.9 × 10−45

3.6%

Dimethylglycine

DMGDH

rs933683

Intronic

5:78324003

G/T

0.44

−0.15

2.3 × 10−14

1.9%

0.29

−0.09

9.5 × 10−6

0.7%

Asparagine

AGA

rs11131799

Intronic

4:178363378

G/A

0.49

−0.14

2.4 × 10−10

2.5%

0.36

−0.26

3.9 × 10−23

4.5%

N-acetyl-1-methylhistidine

NAT8

rs13538

Missense

2:73868328

A/G

0.48

0.34

3.3 × 10−75

9.7%

0.23

0.51

3.4 × 10−85

14.2%

Glutarylcarnitine

SYCE2

rs8012

Missense

19:13010520

A/G

0.19

−0.12

9.5 × 10−14

1.2%

0.46

−0.11

2.5 × 10−17

1.5%

N-acetyl phenylalanine

ALMS1P

rs13431529

Intronic

2:73876041

G/C

0.49

0.09

4.3 × 10−10

1.0%

0.23

0.06

1.2 × 10−5

0.4%

3-Methoxytyrosine

DDC

rs11575302

Silent

7:50607694

G/A

0.15

0.15

2.5 × 10−17

1.5%

0.02

0.19

1.4 × 10−7

0.5%

Indolepropionate

ACSM5

rs8044331

Intronic

16:20450302

T/C

0.42

−0.17

5.3 × 10−10

1.8%

0.22

−0.11

0.001

0.5%

Alpha-hydroxyisovalerate

HAO2

rs17023507

UTR5

1:119923247

C/T

0.10

−0.25

1.6 × 10−13

1.9%

0.002

−0.64

0.001

0.4%

Proline

PRODH

rs1814288

Intronic

22:18923383

C/T

0.30

−0.06

7.8 × 10−12

0.7%

0.21

−0.03

0.003

0.1%

Acisoga

VNN1

rs2272996

Missense

6: 133015271

T/C

0.19

0.18

8.1 × 10−16

0.2%

0.27

0.26

4.8 × 10−34

5.1%

  1. REF/ALT reference allele and alternative allele, MAF minor allele frequency, VarExp variance explained by the loci