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Table 5 SLC25A40 variants which are rare and cause a coding change

From: Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort

rsID

POS

REF

ALT

Annotation

GERP

N

Ancestry

rs943387265

87466057

C

T

MS

5.29

1

AS

NA

87470950

T

A

MS

5.82

1

EA

rs1022111508

87470978

T

C

MS

5.92

1

AA

rs369745713

87470986

T

C

MS

5.92

2

EA

rs148648460

87473070

G

C

MS

5.67

1

EA

rs140104130

87473143

A

T

MS

5.67

1

EA

NA

87473157

T

TGTCTAAGTATTTTC

FS

NA

1

EA/AA

rs746455065

87473158

CAT

C

FS

NA

1

EA

rs147753823

87473175

A

C

MS

5.67

6

EA

rs775550958

87476272

G

A

MS

5.54

1

EA

rs1035790230

87476319

C

T

SG

5.54

1

EA

rs890753675

87476428

A

G

MS

5.54

1

AA

NA

87477248

T

C

MS

5.13

1

EA

rs724665a

87477257

G

A

MS

5.13

119

AA (4), EA (112), EA/AS (3)

rs200954020

87479214

C

T

MS

5.48

6

AS (5), EA/AS (1)

rs1021091982

87483577

C

T

MS

5.91

1

EA

rs748627166

87483582

A

T

SG

3.57

1

EA

rs1443219471

87483607

C

G

MS

5.03

1

EA

NA

87487954

G

A

MS

5.43

1

EA

NA

87488022

TC

T

FS

NA

1

EA/AS

rs747192743

87488041

A

G

MS

5.53

2

AS, EA

  1. POS = position on human build hg19 chromosome 7, REF = reference allele, ALT = alternative allele, MS = missense, FS = frameshift, SG = stop gain, AS = Asian ancestry, EA = European Ancestry, AA = African ancestry
  2. ars724665 was assessed separately from the other missense variants