Table 2 29 SNPs associated with susceptibility to PBC in the Japanese population in chromosome 3q13.33 by high-density association mapping.

From: POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

rs number

SNP location (Chr.3)

GWAS/imputation

Allele 1

Allele 2

P value

OR

Regulome DB score

UCSC (Regulatory Motifs)

Location

rs57271503

119244593

imputation

G

A

3.48E-09

0.724

No data

×

CD80 3′UTR

rs9855065

119130141

imputation

G

A

3.57E-09

0.725

No data

Δ

ARHGAP31 intron 11

rs3830649

119246385

imputation

G

del

4.66E-09

0.727

No data

×

CD80 3′UTR

rs2305249

119128398

imputation

G

A

5.07E-09

0.727

6

×

ARHGAP31 Exon 11 (P567P)

rs13092998

119245044

GWAS (Japonica)

G

T

5.45E-09

0.728

No data

×

CD80 intron 6

rs62264485

119237798

imputation

C

A

6.00E-09

0.728

6

Δ

TIMMDC1 intron 6

rs35264490

119238753

imputation

A

del

6.00E-09

0.728

No data

Δ

TIMMDC1 intron 6

rs2293370

119219934

GWAS (ASI, Japonica)

G

A

6.08E-09

0.728

3a

Δ

TIMMDC1 intron 2

rs1463138

119128634

imputation

T

C

6.34E-09

0.751

6

×

ARHGAP31 intron 11

rs1131265

119222456

imputation

G

C

6.57E-09

0.729

No data

×

TIMMDC1 Exon 3 (V146V)

rs1463139

119128628

imputation

A

G

6.70E-09

0.749

No data

×

ARHGAP31 intron 11

rs3732421

119150089

imputation

A

G

9.93E-09

0.732

5

×

TMEM39A 3′UTR

rs7650774

119205050

imputation

T

C

1.01E-08

0.731

No data

×

POGLUT1 intron 6

rs12636784

119174383

imputation

A

G

1.27E-08

0.733

6

×

TMEM39A intron 3

rs4687853

119130360

imputation

A

G

1.47E-08

0.754

6

×

ARHGAP31 intron 11

rs9843355

119228508

imputation

G

A

1.79E-08

0.735

6

×

TIMMDC1 intron 4

rs1530687

119114515

imputation

G

A

6.26E-08

0.767

5

Δ

ARHGAP31 intron 8

rs9831023

119111762

GWAS (ASI, Japonica)

T

C

6.98E-08

0.768

5

×

ARHGAP31 intron 7

rs9884090

119116150

imputation

G

A

9.34E-08

0.753

5

×

ARHGAP31 intron 8

rs1000198

119113820

imputation

A

C

1.34E-07

0.771

6

×

ARHGAP31 intron 8

rs11922594

119125822

imputation

T

C

1.50E-07

0.771

5

×

ARHGAP31 intron 10

rs6773050

119123814

GWAS(ASI)

C

T

1.62E-07

0.774

6

×

ARHGAP31 intron 10

rs12494314

119122820

imputation

T

C

1.90E-07

0.758

No data

×

ARHGAP31 intron 10

rs4279094

119114693

GWAS(ASI)

A

G

2.12E-07

0.774

4

×

ARHGAP31 intron 8

rs9846036

119116064

imputation

A

C

2.12E-07

0.774

5

×

ARHGAP31 intron 8

rs56008261

119114927

GWAS(Japonica)

T

C

2.61E-07

0.776

1b

O

ARHGAP31 intron 8

rs6776377

119115556

imputation

T

C

2.81E-07

0.776

5

×

ARHGAP31 intron 8

rs6787836

119115567

imputation

A

G

5.85E-07

0.782

5

×

ARHGAP31 intron 8

rs11715698

119118497

imputation

A

G

6.61E-07

0.788

5

×

ARHGAP31 intron 9

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