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Table 5 Vitamin D-associated variants included in the study

From: Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations

Gene/loci

ID number

Fixation index

Minor allele frequency

Variant allele

Function class#

CYP11A1

rs11632698

0.18

0.35

G

Intron

 

rs2073475

0.13

0.38

A

nearGene-5

CYP24A1

rs3787557

0.13

0.12

C

Intron

rs927650

0.14

0.34

T

Intron

rs912505

0.14

0.39

G

Intron

rs2762929

0.15

0.39

T

Intron

rs4809956

0.18

0.40

C*

Intron

CYP27A1

rs7568196

0.14

0.25

A

Intron

rs4674338

0.17

0.25

G

Intron

rs13013510

0.18

0.43

G

Intron

rs691414

0.30

0.06

C

Intron

rs692290

0.38

0.11

G

Intron

CYP2R1

rs16930625

0.14

0.15

G

5′ Prime UTR

 

rs11023374

0.17

0.17

C

Intron

DHCR7/NADSYN1

rs3750997

0.16

0.42

T*

Intron

rs1790325

0.18

0.26

A

Intron

 

rs11603330

0.18

0.35

A

Intron

 

rs7928249

0.20

0.42

A*

nearGene-5

 

rs12800438

0.16

0.40

G*

Intron

 

rs7944926

0.22

0.35

A

Intron

 

rs3794060

0.23

0.35

T

Intron

 

rs12280295

0.53

0.05

C

Intron

GC

rs7041

0.14

0.38

G

Missense

rs4364228

0.14

0.17

G

Intron

rs222047

0.16

0.38

G

Intron

rs3737549

0.16

0.10

T

Intron

rs222016

0.17

0.34

A*

Intron

rs222020

0.17

0.34

T*

Intron

rs843006

0.19

0.36

G

Intron

rs705117

0.25

0.42

A

Intron

RXRα

rs1805343

0.16

0.48

A

Intron

rs1805352

0.16

0.47

A*

Intron

rs10881582

0.18

0.38

G*

Intron

rs3118571

0.19

0.48

A

Intron

rs3818740

0.20

0.38

T*

Intron

rs731516

0.43

0.11

A

Intron

rs7040434

0.51

0.15

C

Intron

RXRγ

rs283695

0.14

0.34

A

Intron

rs12069160

0.15

0.14

T

Intron

rs10800098

0.16

0.12

A

Intron

rs10489745

0.17

0.17

C

Intron

VDR

rs886441

0.13

0.23

C

Intron

rs2283342

0.13

0.19

C

Intron

 

rs2107301

0.16

0.34

T

Intron

 

rs4334089

0.17

0.41

G*

Intron

 

rs4516035

0.18

0.18

C

2KB upstream

  1. *Indicates the variant allele was also the major allele
  2. #Functional class recorded and defined by dpSNP—see www.ncbi.nlm.nih.gov/variation/docs/glossary/