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Table 2 Characteristics of SOAT1 SNPs and haplotypes

From: Impacts of the SOAT1 genetic variants and protein expression on HBV-related hepatocellular carcinoma

SNP

rs10753191

rs3753526

rs13306731

 

Positiona

179,312,752

179,319,541

179,320,578

 

REF

C

C

A

 

ALT

T

G

G

 

Amino acid change

V323V

L475L

Q526R

 

TF bindingb

RFX5

No

No

 

MAFc in CHBd

0.403

0.408

0.306

 

MAF in CEUd

0.091

0.040

0.040

 

MAF in YRId

0.361

0.116

0

 

MAF in the control group

0.394

0.394

0.316

 

Hardy-Weinberg Equilibrium P value in the control group

0.197

0.197

0.790

 

Haplotype

This Study

CHB

CEU

YRI

CCA

0.628

0.592

0.909

0.639

TGG

0.303

0.306

0.040

0.000

TGA

0.069

0.097

0.000

0.116

CGA

0.000

0.005

0.000

0.000

TCA

0.000

0.000

0.051

0.245

  1. aNC_000001.10 (chr1), Feb 2009 GRCh37/hg19)
  2. bTranscriptional factor (TF) binding
  3. cMAF: Minor allele frequency
  4. dGenotype data of CHB, CEU, YRI are all come from 1000Genomes [19]
  5. CHB individuals from unrelated Han Chinese individuals from Beijing, China, CEU residents of Utah with western European ancestry, YRI individuals from Yoruba population of African origin